A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3702062



Internal ID19000343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119564979..119597039hg38UCSC Ensembl
Innerchr1:120107602..120139662hg19UCSC Ensembl
Innerchr1:119909125..119941185hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3832061
hg1932061
hg1832061
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv998903
Supporting Variants
Samples
Known GenesHSD3BP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3702062
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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