nsv4868454
- 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:6,973
- 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: 160 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 160 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4868454 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 42,394,037 (-1, +3) | 42,401,009 (-3, +3) |
nsv4868454 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 42,898,189 (-1, +3) | 42,905,161 (-3, +3) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16373485 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16373485 | Remapped | Perfect | NC_000019.10:g.(42 394036_42394040)_( 42401006_42401012) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,394,037 (-1, +3) | 42,401,009 (-3, +3) |
nssv16373485 | Submitted genomic | NC_000019.9:g.(428 98188_42898192)_(4 2905158_42905164)d el | GRCh37 (hg19) | NC_000019.9 | Chr19 | 42,898,189 (-1, +3) | 42,905,161 (-3, +3) |
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) |
---|---|---|---|
nssv16373485 | <0.001 | 1 | 16834 |