nsv4740554
- Organism: Homo sapiens
- Study:nstd199 (Quan et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:333
- Publication(s):Quan et al. 2021
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: 114 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 14 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 38 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4740554 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 56,267,628 | 56,267,960 |
nsv4740554 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 78,377 | 78,709 |
nsv4740554 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 56,035,104 | 56,035,436 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16281275 | deletion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16281275 | Remapped | Perfect | NW_003871073.1:g.7 8377_78709del | GRCh38.p12 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 78,377 | 78,709 |
nssv16281275 | Remapped | Perfect | NC_000011.10:g.562 67628_56267960del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 56,267,628 | 56,267,960 |
nssv16281275 | Submitted genomic | NC_000011.9:g.5603 5104_56035436del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 56,035,104 | 56,035,436 |