A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001291



Internal ID18743822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:78598959..79684864hg38UCSC Ensembl
Innerchr1:79064644..80150549hg19UCSC Ensembl
Innerchr1:78837232..79923137hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381085906
hg191085906
hg181085906
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3465616
Samples
Known GenesELTD1, IFI44, IFI44L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001291
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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