nsv4662390
- 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:4,060
- Description:nsv4586354 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: 130 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 130 SVs from 34 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4662390 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 49,684,419 | 49,688,478 |
| nsv4662390 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 49,721,852 | 49,725,911 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16182608 | deletion | Curated | Curated |
| nssv16194430 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16182608 | Remapped | Perfect | NC_000003.12:g.(?_ 49684419)_(4968847 8_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 49,684,419 | 49,688,478 |
| nssv16194430 | Remapped | Perfect | NC_000003.12:g.(?_ 49684419)_(4968847 8_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 49,684,419 | 49,688,478 |
| nssv16182608 | Submitted genomic | NC_000003.11:g.(?_ 49721852)_(4972591 1_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 49,721,852 | 49,725,911 | ||
| nssv16194430 | Submitted genomic | NC_000003.11:g.(?_ 49721852)_(4972591 1_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 49,721,852 | 49,725,911 |
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) |
|---|---|---|---|
| nssv16182608 | 0.013 | 11 | 845 |
| nssv16194430 | 0.028 | 24 | 845 |