nsv6126416
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:insertion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:67
- Description:nsv5544860 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: 326 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 302 SVs from 46 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6126416 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 189,897,901 | 189,897,967 |
| nsv6126416 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 546,630 | 546,696 |
| nsv6126416 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187543.1 | Chr4|NT_18 7543.1 | 234,927 | 234,993 |
| nsv6126416 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187650.1 | Chr4|NT_18 7650.1 | 235,410 | 235,476 |
| nsv6126416 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 190,819,056 | 190,819,122 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17968174 | insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17968174 | Remapped | Perfect | NT_187679.1:g.5466 30_546696ins? | GRCh38.p12 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 546,630 | 546,696 |
| nssv17968174 | Remapped | Perfect | NT_187543.1:g.2349 27_234993ins? | GRCh38.p12 | Second Pass | NT_187543.1 | Chr4|NT_18 7543.1 | 234,927 | 234,993 |
| nssv17968174 | Remapped | Perfect | NT_187650.1:g.2354 10_235476ins? | GRCh38.p12 | Second Pass | NT_187650.1 | Chr4|NT_18 7650.1 | 235,410 | 235,476 |
| nssv17968174 | Remapped | Perfect | NC_000004.12:g.189 897901_189897967in s? | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,897,901 | 189,897,967 |
| nssv17968174 | Submitted genomic | NC_000004.11:g.190 819056_190819122in s? | GRCh37 (hg19) | NC_000004.11 | Chr4 | 190,819,056 | 190,819,122 |
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) |
|---|---|---|---|
| nssv17968174 | 0.048 | 287 | 5934 |