nsv4723446
- 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:1
- Description:nsv4297116 from gnomAD Structural Variants. 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: 139 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4723446 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 29,069,823 | 29,069,823 |
| nsv4723446 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571036.1 | Chr5|NW_00 3571036.1 | 42,214 | 42,214 |
| nsv4723446 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 29,069,930 | 29,069,930 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16218673 | insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16218673 | Remapped | Perfect | NW_003571036.1:g.4 2214_42215ins? | GRCh38.p12 | Second Pass | NW_003571036.1 | Chr5|NW_00 3571036.1 | 42,214 | 42,214 |
| nssv16218673 | Remapped | Perfect | NC_000005.10:g.290 69823_29069824ins? | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 29,069,823 | 29,069,823 |
| nssv16218673 | Submitted genomic | NC_000005.9:g.2906 9930_29069931ins? | GRCh37 (hg19) | NC_000005.9 | Chr5 | 29,069,930 | 29,069,930 |
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) |
|---|---|---|---|
| nssv16218673 | 0.036 | 788 | 21670 |