A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605204



Internal ID16045927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:163413877..163415657hg38UCSC Ensembl
Innerchr6:163834909..163836689hg19UCSC Ensembl
Innerchr6:163754899..163756679hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg381781
hg191781
hg181781
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1075609, nssv1075610
Samples
Known GenesCAHM, QKI
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605204
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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