nsv5385016
- 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:6,091
- Description:nsv4781644 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: 454 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 458 SVs from 59 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5385016 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 90,290,726 | 90,296,816 |
| nsv5385016 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187524.1 | Chr2|NT_18 7524.1 | 105,707 | 111,797 |
| nsv5385016 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 90,477,221 | 90,483,311 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16871490 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16871490 | Remapped | Perfect | NT_187524.1:g.1057 07_111797dup | GRCh38.p12 | Second Pass | NT_187524.1 | Chr2|NT_18 7524.1 | 105,707 | 111,797 |
| nssv16871490 | Remapped | Perfect | NC_000002.12:g.902 90726_90296816dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 90,290,726 | 90,296,816 |
| nssv16871490 | Submitted genomic | NC_000002.11:g.904 77221_90483311dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,477,221 | 90,483,311 |
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) |
|---|---|---|---|
| nssv16871490 | 0.137 | 2304 | 16834 |