nsv4984121
- 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:106,989
- 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: 844 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 844 SVs from 70 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4984121 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 1,303,040 (-99) | 1,410,028 (-2, +63) | ||
nsv4984121 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 1,324,270 (-99) | 1,431,258 (-2, +63) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16534057 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16534057 | Submitted genomic | NC_000011.10:g.(13 02941_?)_(1410026_ 1410091)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,303,040 (-99) | 1,410,028 (-2, +63) | ||
nssv16534057 | Remapped | Perfect | NC_000011.9:g.(132 4171_?)_(1431256_1 431321)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,324,270 (-99) | 1,431,258 (-2, +63) |
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) |
---|---|---|---|
nssv16534057 | <0.001 | 1 | 29246 |