A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006564



Internal ID19095781
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 StatusM
Merged Variants
Supporting Variantsnssv3488836
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)nsv1006564
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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