nsv4906654
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,781
- 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: 190 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 192 SVs from 40 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4906654 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 183,613,325 (-30, +75) | 183,619,105 (-71, +29) | ||
nsv4906654 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 183,582,460 (-30, +75) | 183,588,240 (-71, +29) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16423291 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16423291 | Submitted genomic | NC_000001.11:g.(18 3613295_183613400) _(183619034_183619 134)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 183,613,325 (-30, +75) | 183,619,105 (-71, +29) | ||
nssv16423291 | Remapped | Perfect | NC_000001.10:g.(18 3582430_183582535) _(183588169_183588 269)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 183,582,460 (-30, +75) | 183,588,240 (-71, +29) |
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) |
---|---|---|---|
nssv16423291 | <0.001 | 6 | 29246 |