A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1073673



Internal ID19322534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123517946..123518215hg38UCSC Ensembl
chr3:123236793..123237062hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769092
SamplesKWP1
Known GenesPTPLB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1073673
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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