A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007774



Internal ID18750305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:17927977..18222223hg38UCSC Ensembl
Innerchr2:18109244..18403489hg19UCSC Ensembl
Innerchr2:17972725..18266970hg18UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38294247
hg19294246
hg18294246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3578930
Samples
Known GenesKCNS3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007774
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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