A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv570246



Internal ID16010969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82193366..82288923hg38UCSC Ensembl
Innerchr15:82485707..82581264hg19UCSC Ensembl
Innerchr15:80272762..80368319hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3895558
hg1995558
hg1895558
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4682n54
Supporting Variantsnssv847560
Samples
Known GenesEFTUD1, FAM154B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv570246
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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