A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048567



Internal ID18791098
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 StatusM
Merged Variantsdgv673n100
Supporting Variantsnssv3488478, nssv3495395, nssv3496275, nssv3498323
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)nsv1048567
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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