A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001232



Internal ID18743763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:244937290..245539982hg38UCSC Ensembl
Innerchr1:245100592..245703284hg19UCSC Ensembl
Innerchr1:243167215..243769907hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38602693
hg19602693
hg18602693
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv602n100
Supporting Variantsnssv3484425
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)nsv1001232
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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