A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595380



Internal ID16382789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:124344158..124415777hg38UCSC Ensembl
Innerchr4:125265313..125336932hg19UCSC Ensembl
Innerchr4:125484763..125556382hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3871620
hg1971620
hg1871620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1006234
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595380
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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