A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605205



Internal ID16045928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:163413877..163417762hg38UCSC Ensembl
Innerchr6:163834909..163838794hg19UCSC Ensembl
Innerchr6:163754899..163758784hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg383886
hg193886
hg183886
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1075611, nssv1075612
Samples
Known GenesCAHM, QKI
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605205
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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