A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3488836



Internal ID19076477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119507980..119535911hg38UCSC Ensembl
Innerchr1:120050603..120078534hg19UCSC Ensembl
Innerchr1:119852126..119880057hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3827932
hg1927932
hg1827932
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006564
Supporting Variants
Samples
Known GenesHSD3B1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3488836
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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