A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550718



Internal ID15991441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46912180..46982734hg38UCSC Ensembl
Innerchr10:46569734..46640261hg19UCSC Ensembl
Innerchr10:45989740..46060267hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3870555
hg1970528
hg1870528
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv747361
Samples
Known GenesPTPN20A, PTPN20B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550718
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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