A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3489253



Internal ID19076894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152752038..152808046hg38UCSC Ensembl
Innerchr1:152724514..152780522hg19UCSC Ensembl
Innerchr1:150991138..151047146hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3856009
hg1956009
hg1856009
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1004884
Supporting Variants
Samples
Known GenesKPRP, LCE1C, LCE1D, LCE1E, LCE1F
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3489253
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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