A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604053



Internal ID16391462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:80337842..80366195hg38UCSC Ensembl
Innerchr6:81047559..81075912hg19UCSC Ensembl
Innerchr6:81104278..81132631hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3828354
hg1928354
hg1828354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154810
SamplesHGDP00341
Known GenesBCKDHB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604053
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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