nsv4973993
- 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:13,844
- 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: 105 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 22 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4973993 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 102,453,956 (-52, +3) | 102,467,799 (-2, +34) | ||
nsv4973993 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 104,213,713 (-52, +3) | 104,227,556 (-2, +34) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16535508 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16535508 | Submitted genomic | NC_000010.11:g.(10 2453904_102453959) _(102467797_102467 833)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 102,453,956 (-52, +3) | 102,467,799 (-2, +34) | ||
nssv16535508 | Remapped | Perfect | NC_000010.10:g.(10 4213661_104213716) _(104227554_104227 590)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 104,213,713 (-52, +3) | 104,227,556 (-2, +34) |
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) |
---|---|---|---|
nssv16535508 | <0.001 | 1 | 29246 |