A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593435



Internal ID16034158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2769045..2879529hg38UCSC Ensembl
Innerchr4:2770772..2881256hg19UCSC Ensembl
Innerchr4:2740570..2851054hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38110485
hg19110485
hg18110485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv989111
Samples
Known GenesADD1, SH3BP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593435
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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