nsv4670555
- 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:29,257
- Description:nsv4628024 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: 316 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 316 SVs from 59 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4670555 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 70,205,372 | 70,234,628 |
| nsv4670555 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 70,239,275 | 70,268,531 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16185808 | deletion | Curated | Curated |
| nssv16193921 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16185808 | Remapped | Perfect | NC_000016.10:g.(?_ 70205372)_(7023462 8_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,205,372 | 70,234,628 |
| nssv16193921 | Remapped | Perfect | NC_000016.10:g.(?_ 70205372)_(7023462 8_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 70,205,372 | 70,234,628 |
| nssv16185808 | Submitted genomic | NC_000016.9:g.(?_7 0239275)_(70268531 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 70,239,275 | 70,268,531 | ||
| nssv16193921 | Submitted genomic | NC_000016.9:g.(?_7 0239275)_(70268531 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 70,239,275 | 70,268,531 |
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) |
|---|---|---|---|
| nssv16185808 | 0.015 | 13 | 845 |
| nssv16193921 | 0.013 | 11 | 845 |