nsv3318254
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:26
- Validation:Not tested
- Clinical Assertions: No
- Region Size:20,960
- Publication(s):Frenkel et al. 2019
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 701 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 701 SVs from 82 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318254 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nsv3318254 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14467742 | copy number loss | M2102 | SNP array | SNP genotyping analysis | 11 |
| nssv14467971 | copy number loss | M2122 | SNP array | SNP genotyping analysis | 19 |
| nssv14468176 | copy number loss | M2133 | SNP array | SNP genotyping analysis | 15 |
| nssv14468235 | copy number loss | M2136 | SNP array | SNP genotyping analysis | 54 |
| nssv14468396 | copy number loss | M2148 | SNP array | SNP genotyping analysis | 16 |
| nssv14468591 | copy number loss | M2167 | SNP array | SNP genotyping analysis | 21 |
| nssv14468630 | copy number loss | M2170 | SNP array | SNP genotyping analysis | 11 |
| nssv14469169 | copy number loss | M2212 | SNP array | SNP genotyping analysis | 15 |
| nssv14469223 | copy number loss | M2217 | SNP array | SNP genotyping analysis | 18 |
| nssv14469609 | copy number loss | M2254 | SNP array | SNP genotyping analysis | 14 |
| nssv14469644 | copy number loss | M2257 | SNP array | SNP genotyping analysis | 24 |
| nssv14469810 | copy number loss | M2272 | SNP array | SNP genotyping analysis | 13 |
| nssv14469922 | copy number loss | M2290 | SNP array | SNP genotyping analysis | 16 |
| nssv14470059 | copy number loss | M2304 | SNP array | SNP genotyping analysis | 18 |
| nssv14470144 | copy number loss | M2315 | SNP array | SNP genotyping analysis | 17 |
| nssv14470288 | copy number loss | M2326 | SNP array | SNP genotyping analysis | 18 |
| nssv14470591 | copy number loss | M2361 | SNP array | SNP genotyping analysis | 25 |
| nssv14470695 | copy number loss | M2370 | SNP array | SNP genotyping analysis | 18 |
| nssv14470852 | copy number loss | M2387 | SNP array | SNP genotyping analysis | 15 |
| nssv14470916 | copy number loss | M2393 | SNP array | SNP genotyping analysis | 18 |
| nssv14470967 | copy number loss | M2396 | SNP array | SNP genotyping analysis | 16 |
| nssv14470983 | copy number loss | M2397 | SNP array | SNP genotyping analysis | 13 |
| nssv14471187 | copy number loss | M2421 | SNP array | SNP genotyping analysis | 18 |
| nssv14471428 | copy number loss | M2451 | SNP array | SNP genotyping analysis | 9 |
| nssv14471817 | copy number loss | M2496 | SNP array | SNP genotyping analysis | 22 |
| nssv14471875 | copy number loss | M2501 | SNP array | SNP genotyping analysis | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14467742 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14467971 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14468176 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14468235 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14468396 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14468591 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14468630 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14469169 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14469223 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14469609 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14469644 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14469810 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14469922 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14470059 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14470144 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14470288 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14470591 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14470695 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14470852 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14470916 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14470967 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14470983 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14471187 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14471428 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14471817 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14471875 | Remapped | Perfect | NC_000013.11:g.(?_ 68672890)_(6869384 9_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,672,890 | 68,693,849 |
| nssv14467742 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14467971 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14468176 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14468235 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14468396 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14468591 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14468630 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14469169 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14469223 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14469609 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14469644 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14469810 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14469922 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14470059 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14470144 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14470288 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14470591 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14470695 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14470852 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14470916 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14470967 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14470983 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14471187 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14471428 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14471817 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 | ||
| nssv14471875 | Submitted genomic | NC_000013.10:g.(?_ 69247022)_(6926798 1_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,247,022 | 69,267,981 |