A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150443



Internal ID15875859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47022100..47036093hg38UCSC Ensembl
Innerchr2:47249239..47263232hg19UCSC Ensembl
Innerchr2:47102743..47116736hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3813994
hg1913994
hg1813994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581753
Supporting Variants
SamplesHGDP00747
Known GenesTTC7A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150443
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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