A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012995



Internal ID18755526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:34786068..34884653hg38UCSC Ensembl
Innerchr1:35251669..35350254hg19UCSC Ensembl
Innerchr1:35024256..35122841hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3898586
hg1998586
hg1898586
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3700646
Samples
Known GenesDLGAP3, GJA4, GJB3, SMIM12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012995
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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