A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950583



Internal ID17299457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31926400..31935499hg38UCSC Ensembl
Outerchr1:32392001..32401100hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg389100
hg199100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997120
SamplesBILGI_BIOE
Known GenesPTP4A2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950583
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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