nsv4661147
- 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:43,507
- Description:nsv4579618 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: 1034 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1034 SVs from 88 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4661147 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 16,908,614 | 16,952,120 |
| nsv4661147 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 17,235,109 | 17,278,615 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16184245 | deletion | Curated | Curated |
| nssv16205563 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16184245 | Remapped | Perfect | NC_000001.11:g.(?_ 16908614)_(1695212 0_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,908,614 | 16,952,120 |
| nssv16205563 | Remapped | Perfect | NC_000001.11:g.(?_ 16908614)_(1695212 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,908,614 | 16,952,120 |
| nssv16184245 | Submitted genomic | NC_000001.10:g.(?_ 17235109)_(1727861 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,235,109 | 17,278,615 | ||
| nssv16205563 | Submitted genomic | NC_000001.10:g.(?_ 17235109)_(1727861 5_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,235,109 | 17,278,615 |
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) |
|---|---|---|---|
| nssv16184245 | 0.044 | 37 | 845 |
| nssv16205563 | 0.015 | 13 | 845 |