A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv551932



Internal ID15992655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:92689583..92690472hg38UCSC Ensembl
Innerchr10:94449340..94450229hg19UCSC Ensembl
Innerchr10:94439320..94440209hg18UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38890
hg19890
hg18890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1351n54
Supporting Variantsnssv753975
Samples
Known GenesHHEX
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv551932
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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