A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv551939



Internal ID15992662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:92689930..92690681hg38UCSC Ensembl
Innerchr10:94449687..94450438hg19UCSC Ensembl
Innerchr10:94439667..94440418hg18UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38752
hg19752
hg18752
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv753993, nssv753992
Samples
Known GenesHHEX
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv551939
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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