A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030079



Internal ID18772610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:73210327..73274361hg38UCSC Ensembl
Innerchr6:73920050..73984084hg19UCSC Ensembl
Innerchr6:73976771..74040805hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3864035
hg1964035
hg1864035
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3658812
Samples
Known GenesC6orf147, KHDC1, KHDC1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030079
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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