A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545265



Internal ID16332674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6463370..6520836hg38UCSC Ensembl
Innerchr1:6523430..6580896hg19UCSC Ensembl
Innerchr1:6446017..6503483hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3857467
hg1957467
hg1857467
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173655
SamplesHGDP00614
Known GenesPLEKHG5, TNFRSF25
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545265
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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