nsv5393259
- 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:73,517
- Description:nsv4855260 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: 1814 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1033 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 2813 SVs from 97 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5393259 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 105,786,368 | 105,859,884 |
| nsv5393259 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 254,137 | 327,653 |
| nsv5393259 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 106,212,042 | 106,326,104 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16868431 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16868431 | Remapped | Pass | NT_187600.1:g.2541 37_327653del | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 254,137 | 327,653 |
| nssv16868431 | Remapped | Pass | NC_000014.9:g.1057 86368_105859884del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 105,786,368 | 105,859,884 |
| nssv16868431 | Submitted genomic | NC_000014.8:g.1062 12042_106326104del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,212,042 | 106,326,104 |
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) |
|---|---|---|---|
| nssv16868431 | 0.018 | 294 | 16832 |