A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594203



Internal ID16034926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:54093838..54164208hg38UCSC Ensembl
Innerchr4:54960005..55030375hg19UCSC Ensembl
Innerchr4:54654762..54725132hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3870371
hg1970371
hg1870371
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9049n54
Supporting Variantsnssv998038
Samples
Known GenesGSX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594203
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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