nsv4977385
- 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:1,186
- 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: 187 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 187 SVs from 28 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4977385 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 124,712,996 (-27, +96) | 124,714,181 (-73, +27) | ||
nsv4977385 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 126,401,565 (-27, +96) | 126,402,750 (-73, +27) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16522587 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16522587 | Submitted genomic | NC_000010.11:g.(12 4712969_124713092) _(124714108_124714 208)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 124,712,996 (-27, +96) | 124,714,181 (-73, +27) | ||
nssv16522587 | Remapped | Perfect | NC_000010.10:g.(12 6401538_126401661) _(126402677_126402 777)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 126,401,565 (-27, +96) | 126,402,750 (-73, +27) |
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) |
---|---|---|---|
nssv16522587 | <0.001 | 3 | 29246 |