A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594031



Internal ID16034754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39808834..39856900hg38UCSC Ensembl
Innerchr4:39810454..39858520hg19UCSC Ensembl
Innerchr4:39486849..39534915hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3848067
hg1948067
hg1848067
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153460
SamplesHGDP00110
Known GenesPDS5A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594031
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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