A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1069476



Internal ID18970243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46864249..46937236hg38UCSC Ensembl
chr10:46615199..46688200hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3872988
hg1973002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762788
SamplesKWP1
Known GenesPTPN20A, PTPN20B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1069476
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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