A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv930165



Internal ID16224121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:194348942..194476886hg38UCSC Ensembl
Innerchr2:195213666..195341610hg19UCSC Ensembl
Innerchr2:194921911..195049855hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38127945
hg19127945
hg18127945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584095
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv930165
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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