A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010761



Internal ID18753293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52770531..52817242hg38UCSC Ensembl
Innerchr3:52804547..52851258hg19UCSC Ensembl
Innerchr3:52779587..52826298hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3846712
hg1946712
hg1846712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3595260
Samples
Known GenesITIH1, ITIH3, ITIH4, NEK4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010761
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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