A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552025



Internal ID15992748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:97375027..97445034hg38UCSC Ensembl
Innerchr10:99134784..99204791hg19UCSC Ensembl
Innerchr10:99124774..99194781hg18UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg3870008
hg1970008
hg1870008
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174569
SamplesNINDS_22
Known GenesEXOSC1, PGAM1, RRP12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552025
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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