A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599955



Internal ID16040678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150126061..150169260hg38UCSC Ensembl
Innerchr5:149505624..149548823hg19UCSC Ensembl
Innerchr5:149485817..149529016hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3843200
hg1943200
hg1843200
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1043282
Samples
Known GenesCDX1, PDGFRB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599955
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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