nsv4663128
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,557
- Description:nsv4579401 from DECIPHER Consensus CNVs. For a full list of variants now included in nstd186, refer to the mapping file provided here.
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: 213 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 217 SVs from 47 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4663128 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 159,041,060 | 159,049,616 |
| nsv4663128 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 159,010,850 | 159,019,406 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16182824 | duplication | Curated | Curated |
| nssv16203335 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16182824 | Remapped | Perfect | NC_000001.11:g.(?_ 159041060)_(159049 616_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 159,041,060 | 159,049,616 |
| nssv16203335 | Remapped | Perfect | NC_000001.11:g.(?_ 159041060)_(159049 616_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 159,041,060 | 159,049,616 |
| nssv16182824 | Submitted genomic | NC_000001.10:g.(?_ 159010850)_(159019 406_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 159,010,850 | 159,019,406 | ||
| nssv16203335 | Submitted genomic | NC_000001.10:g.(?_ 159010850)_(159019 406_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 159,010,850 | 159,019,406 |
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) |
|---|---|---|---|
| nssv16182824 | 0.014 | 12 | 845 |
| nssv16203335 | 0.071 | 60 | 845 |