A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3487296



Internal ID18728251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:244936197..245533958hg38UCSC Ensembl
Innerchr1:245099499..245697260hg19UCSC Ensembl
Innerchr1:243166122..243763883hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38597762
hg19597762
hg18597762
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009538
Supporting Variants
Samples
Known GenesEFCAB2, KIF26B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3487296
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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