nsv4853382
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:814
- Publication(s):Abel et al. 2020
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: 100 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 100 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4853382 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 50,503,272 (-29, +29) | 50,504,085 (-21, +21) |
nsv4853382 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 51,006,529 (-29, +29) | 51,007,342 (-21, +21) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16374865 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16374865 | Remapped | Perfect | NC_000019.10:g.(50 503243_50503301)_( 50504064_50504106) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 50,503,272 (-29, +29) | 50,504,085 (-21, +21) |
nssv16374865 | Submitted genomic | NC_000019.9:g.(510 06500_51006558)_(5 1007321_51007363)d el | GRCh37 (hg19) | NC_000019.9 | Chr19 | 51,006,529 (-29, +29) | 51,007,342 (-21, +21) |
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) |
---|---|---|---|
nssv16374865 | <0.001 | 2 | 16834 |