nsv5392187
- 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:316
- Description:nsv4865326 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: 119 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 36 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 34 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5392187 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,408,628 | 54,408,708 |
| nsv5392187 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 391,355 | 391,498 |
| nsv5392187 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 313,598 | 313,913 |
| nsv5392187 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 315,758 | 315,855 |
| nsv5392187 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,920,241 | 54,920,384 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16878284 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16878284 | Remapped | Perfect | NT_187693.1:g.3913 55_391498dup | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 391,355 | 391,498 |
| nssv16878284 | Remapped | Pass | NW_003571060.1:g.3 13598_313913dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 313,598 | 313,913 |
| nssv16878284 | Remapped | Pass | NW_003571054.1:g.3 15758_315855dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 315,758 | 315,855 |
| nssv16878284 | Remapped | Pass | NC_000019.10:g.544 08628_54408708dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,408,628 | 54,408,708 |
| nssv16878284 | Submitted genomic | NC_000019.9:g.5492 0241_54920384dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,920,241 | 54,920,384 |
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) |
|---|---|---|---|
| nssv16878284 | 0.412 | 6935 | 16828 |