A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032812



Internal ID18775346
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 StatusM
Merged Variantsdgv6203n100
Supporting Variantsnssv3749716
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)nsv1032812
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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