A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002289



Internal ID18744821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:244946918..245506079hg38UCSC Ensembl
Innerchr1:245110220..245669381hg19UCSC Ensembl
Innerchr1:243176843..243736004hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38559162
hg19559162
hg18559162
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv602n100
Supporting Variantsnssv3501278
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)nsv1002289
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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