A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561395



Internal ID16002118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:30438767..30482631hg38UCSC Ensembl
Innerchr13:31012904..31056768hg19UCSC Ensembl
Innerchr13:29910904..29954768hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3843865
hg1943865
hg1843865
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176349
Samples1780862275_A
Known GenesHMGB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561395
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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