A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3595258



Internal ID18546853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:51826801..51865950hg38UCSC Ensembl
Innerchr3:51860817..51899966hg19UCSC Ensembl
Innerchr3:51835857..51875006hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3839150
hg1939150
hg1839150
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1001350
Supporting Variants
Samples
Known GenesIQCF2, IQCF3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3595258
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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