A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555402



Internal ID15996125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:71489274..71578043hg38UCSC Ensembl
Innerchr11:71200320..71289089hg19UCSC Ensembl
Innerchr11:70877968..70966737hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3888770
hg1988770
hg1888770
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv778985
Samples
Known GenesKRTAP5-10, KRTAP5-7, KRTAP5-8, KRTAP5-9, NADSYN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555402
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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