A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550697



Internal ID16338106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:43226033..43353910hg38UCSC Ensembl
Innerchr10:43721481..43849358hg19UCSC Ensembl
Innerchr10:43041487..43169364hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38127878
hg19127878
hg18127878
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv747326
Samples
Known GenesRASGEF1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550697
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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