nsv4869361
- 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:4,166
- 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: 1081 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 370 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 1081 SVs from 67 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4869361 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 22,494,932 (-55, +1) | 22,499,097 (-1, +58) |
| nsv4869361 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187629.1 | Chr22|NT_1 87629.1 | 130,589 (-55, +1) | 134,754 (-1, +58) |
| nsv4869361 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 22,849,251 (-55, +1) | 22,853,407 (-1, +58) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16408285 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16408285 | Remapped | Good | NT_187629.1:g.(130 534_130590)_(13475 3_134812)dup | GRCh38.p12 | Second Pass | NT_187629.1 | Chr22|NT_1 87629.1 | 130,589 (-55, +1) | 134,754 (-1, +58) |
| nssv16408285 | Remapped | Good | NC_000022.11:g.(22 494877_22494933)_( 22499096_22499155) dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,494,932 (-55, +1) | 22,499,097 (-1, +58) |
| nssv16408285 | Submitted genomic | NC_000022.10:g.(22 849196_22849252)_( 22853406_22853465) dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,849,251 (-55, +1) | 22,853,407 (-1, +58) |
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) |
|---|---|---|---|
| nssv16408285 | <0.001 | 1 | 16826 |