A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697707



Internal ID15087673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45528530..45604398hg38UCSC Ensembl
Innerchr2:45755669..45831537hg19UCSC Ensembl
Innerchr2:45609173..45685041hg18UCSC Ensembl
Innerchr2:45667320..45743188hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3875869
hg1975869
hg1875869
hg1775869
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520955
Supporting Variants
Samples
Known GenesSRBD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697707
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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