A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3472644



Internal ID18718399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:84144188..84202267hg38UCSC Ensembl
Innerchr1:84609871..84667950hg19UCSC Ensembl
Innerchr1:84382459..84440538hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3858080
hg1958080
hg1858080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1005225
Supporting Variants
Samples
Known GenesPRKACB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3472644
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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