A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3501512



Internal ID18742467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12059681..12134998hg38UCSC Ensembl
Innerchr10:12101680..12176997hg19UCSC Ensembl
Innerchr10:12141686..12217003hg18UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3875318
hg1975318
hg1875318
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1053838
Supporting Variants
Samples
Known GenesDHTKD1, SEC61A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3501512
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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