nsv6130668
- 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:17
- Description:nsv5536986 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: 337 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 67 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 337 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6130668 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 46,161,014 | 46,161,030 |
| nsv6130668 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187626.1 | Chr21|NT_1 87626.1 | 20,077 | 20,093 |
| nsv6130668 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 47,580,928 | 47,580,944 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17960199 | insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17960199 | Remapped | Perfect | NT_187626.1:g.2007 7_20093ins? | GRCh38.p12 | Second Pass | NT_187626.1 | Chr21|NT_1 87626.1 | 20,077 | 20,093 |
| nssv17960199 | Remapped | Perfect | NC_000021.9:g.4616 1014_46161030ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 46,161,014 | 46,161,030 |
| nssv17960199 | Submitted genomic | NC_000021.8:g.4758 0928_47580944ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 47,580,928 | 47,580,944 |
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) |
|---|---|---|---|
| nssv17960199 | 0.128 | 731 | 5708 |