nsv5393311
- 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:457
- Description:nsv4863641 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: 1239 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 971 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 1269 SVs from 75 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5393311 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | Second Pass | NC_000014.9 | Chr14 | 105,627,898 | 105,628,354 |
| nsv5393311 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 95,667 | 96,123 |
| nsv5393311 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 106,094,235 | 106,094,691 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16880813 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16880813 | Remapped | Perfect | NT_187600.1:g.9566 7_96123dup | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 95,667 | 96,123 |
| nssv16880813 | Remapped | Perfect | NC_000014.9:g.1056 27898_105628354dup | GRCh38.p12 | Second Pass | NC_000014.9 | Chr14 | 105,627,898 | 105,628,354 |
| nssv16880813 | Submitted genomic | NC_000014.8:g.1060 94235_106094691dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,094,235 | 106,094,691 |
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) |
|---|---|---|---|
| nssv16880813 | 0.293 | 4929 | 16832 |