nsv5393107
- 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:828
- Description:nsv4865323 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: 190 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 57 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 121 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5393107 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,349,079 | 54,349,906 |
| nsv5393107 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 332,026 | 332,643 |
| nsv5393107 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 331,205 | 331,882 |
| nsv5393107 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,860,912 | 54,861,529 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16886240 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16886240 | Remapped | Perfect | NT_187693.1:g.3320 26_332643dup | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 332,026 | 332,643 |
| nssv16886240 | Remapped | Pass | NW_003571061.2:g.3 31205_331882dup | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 331,205 | 331,882 |
| nssv16886240 | Remapped | Pass | NC_000019.10:g.543 49079_54349906dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,349,079 | 54,349,906 |
| nssv16886240 | Submitted genomic | NC_000019.9:g.5486 0912_54861529dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,860,912 | 54,861,529 |
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) |
|---|---|---|---|
| nssv16886240 | 0.505 | 8506 | 16834 |