nsv4655315
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:68,570
- Description:esv3834770 from 1000 Genomes Consortium Phase 3 Integrated SV. 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: 862 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 687 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 862 SVs from 85 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4655315 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,779,695 | 34,848,264 |
| nsv4655315 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 272,024 | 340,593 |
| nsv4655315 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 34,781,317 | 34,849,886 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16201220 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16201220 | Remapped | Perfect | NW_003315915.1:g.2 72024_340593del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 272,024 | 340,593 |
| nssv16201220 | Remapped | Perfect | NC_000004.12:g.347 79695_34848264del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,695 | 34,848,264 |
| nssv16201220 | Submitted genomic | NC_000004.11:g.347 81317_34849886del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,317 | 34,849,886 |
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) |
|---|---|---|---|
| nssv16201220 | 0.165 | 827 | 5008 |