A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv920078



Internal ID15867348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:132915145..132916456hg38UCSC Ensembl
Innerchr2:133672718..133674029hg19UCSC Ensembl
Innerchr2:133389188..133390499hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg381312
hg191312
hg181312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv583160
Supporting Variants
Samples
Known GenesMIR7853, NCKAP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv920078
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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