A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550717



Internal ID15991440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46882011..46985401hg38UCSC Ensembl
Innerchr10:46567068..46670452hg19UCSC Ensembl
Innerchr10:45987074..46090458hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38103391
hg19103385
hg18103385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv747360
Samples
Known GenesFRMPD2P1, PTPN20A, PTPN20B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550717
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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