A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3501595



Internal ID18799876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:193239807..193271250hg38UCSC Ensembl
Innerchr1:193208937..193240380hg19UCSC Ensembl
Innerchr1:191475560..191507003hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3831444
hg1931444
hg1831444
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1002564
Supporting Variants
Samples
Known GenesCDC73
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3501595
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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