nsv4780734
- 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:37,125
- 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: 169 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 169 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4780734 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 28,256,785 (-69, +1) | 28,293,909 (-2, +70) |
| nsv4780734 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654706.1 | Chr1|NW_01 8654706.1 | 50,429 (-69, +1) | 87,553 (-2, +70) |
| nsv4780734 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 28,583,296 (-69, +1) | 28,620,420 (-2, +70) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16382191 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16382191 | Remapped | Perfect | NW_018654706.1:g.( 50360_50430)_(8755 1_87623)dup | GRCh38.p12 | Second Pass | NW_018654706.1 | Chr1|NW_01 8654706.1 | 50,429 (-69, +1) | 87,553 (-2, +70) |
| nssv16382191 | Remapped | Perfect | NC_000001.11:g.(28 256716_28256786)_( 28293907_28293979) dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 28,256,785 (-69, +1) | 28,293,909 (-2, +70) |
| nssv16382191 | Submitted genomic | NC_000001.10:g.(28 583227_28583297)_( 28620418_28620490) dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 28,583,296 (-69, +1) | 28,620,420 (-2, +70) |
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) |
|---|---|---|---|
| nssv16382191 | <0.001 | 1 | 16834 |