nsv3318734
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:30,204
- 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: 624 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 624 SVs from 77 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318734 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 53,015,494 | 53,045,697 |
| nsv3318734 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 53,518,747 | 53,548,950 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14467844 | copy number gain | M2112 | SNP array | SNP genotyping analysis | 22 |
| nssv14468220 | copy number gain | M2135 | SNP array | SNP genotyping analysis | 17 |
| nssv14468361 | copy number gain | M2145 | SNP array | SNP genotyping analysis | 16 |
| nssv14468414 | copy number gain | M2150 | SNP array | SNP genotyping analysis | 19 |
| nssv14468562 | copy number gain | M2165 | SNP array | SNP genotyping analysis | 17 |
| nssv14469356 | copy number gain | M2228 | SNP array | SNP genotyping analysis | 21 |
| nssv14469924 | copy number gain | M2290 | SNP array | SNP genotyping analysis | 16 |
| nssv14470558 | copy number gain | M2357 | SNP array | SNP genotyping analysis | 11 |
| nssv14470658 | copy number gain | M2366 | SNP array | SNP genotyping analysis | 23 |
| nssv14470813 | copy number gain | M2383 | SNP array | SNP genotyping analysis | 23 |
| nssv14471943 | copy number gain | M2507 | SNP array | SNP genotyping analysis | 19 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14467844 | Remapped | Perfect | NC_000019.10:g.(?_ 53015494)_(5304569 7_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,015,494 | 53,045,697 |
| nssv14468220 | Remapped | Perfect | NC_000019.10:g.(?_ 53015494)_(5304569 7_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,015,494 | 53,045,697 |
| nssv14468361 | Remapped | Perfect | NC_000019.10:g.(?_ 53015494)_(5304569 7_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,015,494 | 53,045,697 |
| nssv14468414 | Remapped | Perfect | NC_000019.10:g.(?_ 53015494)_(5304569 7_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,015,494 | 53,045,697 |
| nssv14468562 | Remapped | Perfect | NC_000019.10:g.(?_ 53015494)_(5304569 7_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,015,494 | 53,045,697 |
| nssv14469356 | Remapped | Perfect | NC_000019.10:g.(?_ 53015494)_(5304569 7_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,015,494 | 53,045,697 |
| nssv14469924 | Remapped | Perfect | NC_000019.10:g.(?_ 53015494)_(5304569 7_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,015,494 | 53,045,697 |
| nssv14470558 | Remapped | Perfect | NC_000019.10:g.(?_ 53015494)_(5304569 7_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,015,494 | 53,045,697 |
| nssv14470658 | Remapped | Perfect | NC_000019.10:g.(?_ 53015494)_(5304569 7_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,015,494 | 53,045,697 |
| nssv14470813 | Remapped | Perfect | NC_000019.10:g.(?_ 53015494)_(5304569 7_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,015,494 | 53,045,697 |
| nssv14471943 | Remapped | Perfect | NC_000019.10:g.(?_ 53015494)_(5304569 7_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,015,494 | 53,045,697 |
| nssv14467844 | Submitted genomic | NC_000019.9:g.(?_5 3518747)_(53548950 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,518,747 | 53,548,950 | ||
| nssv14468220 | Submitted genomic | NC_000019.9:g.(?_5 3518747)_(53548950 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,518,747 | 53,548,950 | ||
| nssv14468361 | Submitted genomic | NC_000019.9:g.(?_5 3518747)_(53548950 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,518,747 | 53,548,950 | ||
| nssv14468414 | Submitted genomic | NC_000019.9:g.(?_5 3518747)_(53548950 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,518,747 | 53,548,950 | ||
| nssv14468562 | Submitted genomic | NC_000019.9:g.(?_5 3518747)_(53548950 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,518,747 | 53,548,950 | ||
| nssv14469356 | Submitted genomic | NC_000019.9:g.(?_5 3518747)_(53548950 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,518,747 | 53,548,950 | ||
| nssv14469924 | Submitted genomic | NC_000019.9:g.(?_5 3518747)_(53548950 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,518,747 | 53,548,950 | ||
| nssv14470558 | Submitted genomic | NC_000019.9:g.(?_5 3518747)_(53548950 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,518,747 | 53,548,950 | ||
| nssv14470658 | Submitted genomic | NC_000019.9:g.(?_5 3518747)_(53548950 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,518,747 | 53,548,950 | ||
| nssv14470813 | Submitted genomic | NC_000019.9:g.(?_5 3518747)_(53548950 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,518,747 | 53,548,950 | ||
| nssv14471943 | Submitted genomic | NC_000019.9:g.(?_5 3518747)_(53548950 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,518,747 | 53,548,950 |