A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004381



Internal ID18746912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:92502616..92599266hg38UCSC Ensembl
Innerchr1:92968173..93064823hg19UCSC Ensembl
Innerchr1:92740761..92837411hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3896651
hg1996651
hg1896651
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3469823
Samples
Known GenesEVI5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004381
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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