A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv551934



Internal ID15992657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:92689583..92690629hg38UCSC Ensembl
Innerchr10:94449340..94450386hg19UCSC Ensembl
Innerchr10:94439320..94440366hg18UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg381047
hg191047
hg181047
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1352n54
Supporting Variantsnssv753977, nssv753978
Samples
Known GenesHHEX
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv551934
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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