A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3488478



Internal ID18729433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12067183..12127501hg38UCSC Ensembl
Innerchr10:12109182..12169500hg19UCSC Ensembl
Innerchr10:12149188..12209506hg18UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3860319
hg1960319
hg1860319
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1048567
Supporting Variants
Samples
Known GenesDHTKD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3488478
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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