nsv5392017
- 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:48,125
- Description:nsv4994500 from Abel et. al 2020. 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: 1038 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 673 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 1038 SVs from 71 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5392017 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 15,882,316 | 15,930,440 |
| nsv5392017 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,540,311 | 1,588,404 |
| nsv5392017 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 15,976,173 | 16,024,297 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16881227 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16881227 | Remapped | Good | NT_187607.1:g.1540 311_1588404dup | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,540,311 | 1,588,404 |
| nssv16881227 | Remapped | Perfect | NC_000016.10:g.158 82316_15930440dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,882,316 | 15,930,440 |
| nssv16881227 | Submitted genomic | NC_000016.9:g.1597 6173_16024297dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 15,976,173 | 16,024,297 |
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) |
|---|---|---|---|
| nssv16881227 | 0.012 | 352 | 29246 |