A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003960



Internal ID18746491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74630228..74769504hg38UCSC Ensembl
Innerchr2:74857355..74996631hg19UCSC Ensembl
Innerchr2:74710863..74850139hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38139277
hg19139277
hg18139277
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581991
Samples
Known GenesM1AP, SEMA4F
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003960
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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