A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648942



Internal ID18600537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:87459269..87700010hg38UCSC Ensembl
Innerchr6:88168987..88409728hg19UCSC Ensembl
Innerchr6:88225706..88466447hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38240742
hg19240742
hg18240742
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1027706
Supporting Variants
Samples
Known GenesAKIRIN2, C6orf165, ORC3, RARS2, SLC35A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3648942
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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