A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031677



Internal ID18774211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:30889765..31005088hg38UCSC Ensembl
Innerchr6:30857542..30972865hg19UCSC Ensembl
Innerchr6:30965521..31080844hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38115324
hg19115324
hg18115324
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3655774
Samples
Known GenesDDR1, DPCR1, GTF2H4, MIR4640, MUC21, SFTA2, VARS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031677
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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