A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003896



Internal ID18746427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39866941..40004445hg38UCSC Ensembl
Innerchr2:40094081..40231585hg19UCSC Ensembl
Innerchr2:39947585..40085089hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38137505
hg19137505
hg18137505
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581477
Samples
Known GenesSLC8A1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003896
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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