nsv6113850
- 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:2,518
- Description:nsv5418099 from Byrska-Bishop et. al 2021. 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: 499 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 44 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 46 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 499 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6113850 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 79,033,253 | 79,035,770 |
| nsv6113850 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187666.1 | Chr18|NT_1 87666.1 | 102,234 | 104,407 |
| nsv6113850 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 103,803 | 106,320 |
| nsv6113850 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 76,793,253 | 76,795,770 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17958806 | copy number variation | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv17958806 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_187666.1 | Chr18|NT_1 87666.1 | 102,234 | 104,407 |
| nssv17958806 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 103,803 | 106,320 |
| nssv17958806 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 79,033,253 | 79,035,770 |
| nssv17958806 | Submitted genomic | GRCh37 (hg19) | NC_000018.9 | Chr18 | 76,793,253 | 76,795,770 |
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) |
|---|---|---|---|
| nssv17958806 | 0.476 | 927 | 1948 |