nsv4647295
- 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:52,004
- Description:nsv4235748 from gnomAD Structural Variants. 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: 542 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 285 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 542 SVs from 73 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4647295 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 16,452,143 | 16,504,143 |
| nsv4647295 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,113,200 | 2,165,203 |
| nsv4647295 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 16,546,000 | 16,598,000 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16154648 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16154648 | Remapped | Good | NT_187607.1:g.2113 200_2165203del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,113,200 | 2,165,203 |
| nssv16154648 | Remapped | Perfect | NC_000016.10:g.164 52143_16504143del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 16,452,143 | 16,504,143 |
| nssv16154648 | Submitted genomic | NC_000016.9:g.1654 6000_16598000del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 16,546,000 | 16,598,000 |
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) |
|---|---|---|---|
| nssv16154648 | 0.041 | 755 | 18570 |