A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv551928



Internal ID15992651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:92689478..92690681hg38UCSC Ensembl
Innerchr10:94449235..94450438hg19UCSC Ensembl
Innerchr10:94439215..94440418hg18UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg381204
hg191204
hg181204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1350n54
Supporting Variantsnssv753964, nssv753965
Samples
Known GenesHHEX
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv551928
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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