A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17501242



Internal ID22559180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130256272..130262121hg38UCSC Ensembl
chr7:129896112..129901961hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg385850
hg195850
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5864825
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17501242
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer