A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997716



Internal ID18810566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191225917..191309710hg38UCSC Ensembl
Innerchr3:190943706..191027499hg19UCSC Ensembl
Innerchr3:192426400..192510193hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3883794
hg1983794
hg1883794
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3611331
Samples
Known GenesOSTN, UTS2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997716
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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