nsv4591851
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:119,741
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: 643 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 643 SVs from 76 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4591851 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 100,412,048 | 100,531,788 |
nsv4591851 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 99,747,752 | 99,867,492 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16099549 | deletion | Curated | Curated |
nssv16102194 | duplication | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16099549 | Remapped | Perfect | NC_000005.10:g.(?_ 100412048)_(100531 788_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 100,412,048 | 100,531,788 |
nssv16102194 | Remapped | Perfect | NC_000005.10:g.(?_ 100412048)_(100531 788_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 100,412,048 | 100,531,788 |
nssv16099549 | Submitted genomic | NC_000005.9:g.(?_9 9747752)_(99867492 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 99,747,752 | 99,867,492 | ||
nssv16102194 | Submitted genomic | NC_000005.9:g.(?_9 9747752)_(99867492 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 99,747,752 | 99,867,492 |
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) |
---|---|---|---|
nssv16099549 | 0.001 | 6 | 5919 |
nssv16102194 | <0.001 | 1 | 5919 |