nsv5390681
- 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:305
- Description:nsv4861340 from Abel et. al 2020. 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: 856 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 736 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 699 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 734 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 779 SVs from 73 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5390681 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,233,355 | 54,233,659 |
| nsv5390681 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 208,345 | 208,649 |
| nsv5390681 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 208,344 | 208,648 |
| nsv5390681 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 208,164 | 208,468 |
| nsv5390681 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,737,231 | 54,737,535 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16875822 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16875822 | Remapped | Perfect | NT_187693.1:g.2083 45_208649del | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 208,345 | 208,649 |
| nssv16875822 | Remapped | Perfect | NW_003571060.1:g.2 08344_208648del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 208,344 | 208,648 |
| nssv16875822 | Remapped | Perfect | NW_003571054.1:g.2 08164_208468del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 208,164 | 208,468 |
| nssv16875822 | Remapped | Perfect | NC_000019.10:g.542 33355_54233659del | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,233,355 | 54,233,659 |
| nssv16875822 | Submitted genomic | NC_000019.9:g.5473 7231_54737535del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,737,231 | 54,737,535 |
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) |
|---|---|---|---|
| nssv16875822 | 0.365 | 6092 | 16706 |