A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550719



Internal ID15991442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46810165..46982734hg38UCSC Ensembl
Innerchr10:46569734..46739435hg19UCSC Ensembl
Innerchr10:45989740..46159441hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38172570
hg19169702
hg18169702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv747362
Samples
Known GenesBMS1P1, BMS1P5, FRMPD2P1, PTPN20A, PTPN20B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550719
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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