A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596369



Internal ID16037092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:184907523..185314394hg38UCSC Ensembl
Innerchr4:185828677..186235548hg19UCSC Ensembl
Innerchr4:186065671..186472542hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38406872
hg19406872
hg18406872
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153519
Samples1780862466_A
Known GenesHELT, KIAA1430, SLC25A4, SNX25
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596369
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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