nsv6306567
- 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:670
- Description:nsv6144403 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: 525 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 525 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6306567 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 79,014,540 | 79,015,209 |
| nsv6306567 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187666.1 | Chr18|NT_1 87666.1 | 79,655 | 80,324 |
| nsv6306567 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 79,656 | 80,325 |
| nsv6306567 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 76,774,540 | 76,775,209 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17958803 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17958803 | Remapped | Perfect | NT_187666.1:g.7965 5_80324del | GRCh38.p12 | Second Pass | NT_187666.1 | Chr18|NT_1 87666.1 | 79,655 | 80,324 |
| nssv17958803 | Remapped | Perfect | NW_003315961.1:g.7 9656_80325del | GRCh38.p12 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 79,656 | 80,325 |
| nssv17958803 | Remapped | Perfect | NC_000018.10:g.790 14540_79015209del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 79,014,540 | 79,015,209 |
| nssv17958803 | Submitted genomic | NC_000018.9:g.7677 4540_76775209del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 76,774,540 | 76,775,209 |
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) |
|---|---|---|---|
| nssv17958803 | 0.254 | 1426 | 5618 |