A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3749716



Internal ID18701311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:168843444..169391380hg38UCSC Ensembl
Innerchr6:169243539..169791475hg19UCSC Ensembl
Innerchr6:168985464..169533400hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38547937
hg19547937
hg18547937
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1032812
Supporting Variants
Samples
Known GenesTHBS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3749716
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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