A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584436



Internal ID16025159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:214680236..214768739hg38UCSC Ensembl
Innerchr2:215544960..215633463hg19UCSC Ensembl
Innerchr2:215253205..215341708hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3888504
hg1988504
hg1888504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv931195
Samples
Known GenesBARD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584436
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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