nsv4860348
- 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:641
- 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: 132 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 132 SVs from 23 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4860348 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 12,877,009 (-30, +43) | 12,877,649 (-28, +28) |
nsv4860348 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 12,987,823 (-30, +43) | 12,988,463 (-28, +28) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16372460 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16372460 | Remapped | Perfect | NC_000019.10:g.(12 876979_12877052)_( 12877621_12877677) del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 12,877,009 (-30, +43) | 12,877,649 (-28, +28) |
nssv16372460 | Submitted genomic | NC_000019.9:g.(129 87793_12987866)_(1 2988435_12988491)d el | GRCh37 (hg19) | NC_000019.9 | Chr19 | 12,987,823 (-30, +43) | 12,988,463 (-28, +28) |
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) |
---|---|---|---|
nssv16372460 | <0.001 | 2 | 16834 |