A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009469



Internal ID19098687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117491353..117641566hg38UCSC Ensembl
Innerchr2:118248929..118399142hg19UCSC Ensembl
Innerchr2:117965399..118115612hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38150214
hg19150214
hg18150214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4060n100
Supporting Variantsnssv3580689
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009469
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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