A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3582799



Internal ID18881080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:137316225..137393026hg38UCSC Ensembl
Innerchr2:138073795..138150596hg19UCSC Ensembl
Innerchr2:137790265..137867066hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3876802
hg1976802
hg1876802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv998858
Supporting Variants
Samples
Known GenesTHSD7B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3582799
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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