A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590440



Internal ID16377849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:62027013..62058934hg38UCSC Ensembl
Innerchr3:62012687..62044608hg19UCSC Ensembl
Innerchr3:61987727..62019648hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3831922
hg1931922
hg1831922
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151903
Samples1780862586_A
Known GenesPTPRG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590440
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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