A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3482764



Internal ID18723719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12039222..12127501hg38UCSC Ensembl
Innerchr10:12081221..12169500hg19UCSC Ensembl
Innerchr10:12121227..12209506hg18UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3888280
hg1988280
hg1888280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1035894
Supporting Variants
Samples
Known GenesDHTKD1, UPF2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3482764
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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