nsv4617967
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:150,005
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: 760 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 760 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4617967 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 13,511,536 | 13,661,540 |
| nsv4617967 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 13,551,161 | 13,701,165 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16119237 | deletion | Curated | Curated |
| nssv16124865 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16119237 | Remapped | Perfect | NC_000007.14:g.(?_ 13511536)_(1366154 0_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 13,511,536 | 13,661,540 |
| nssv16124865 | Remapped | Perfect | NC_000007.14:g.(?_ 13511536)_(1366154 0_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 13,511,536 | 13,661,540 |
| nssv16119237 | Submitted genomic | NC_000007.13:g.(?_ 13551161)_(1370116 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 13,551,161 | 13,701,165 | ||
| nssv16124865 | Submitted genomic | NC_000007.13:g.(?_ 13551161)_(1370116 5_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 13,551,161 | 13,701,165 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16119237 | <0.001 | 1 | 5919 |
| nssv16124865 | <0.001 | 1 | 5919 |