A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596417



Internal ID16037140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:186341335..186608750hg38UCSC Ensembl
Innerchr4:187262489..187529904hg19UCSC Ensembl
Innerchr4:187499483..187766898hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38267416
hg19267416
hg18267416
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1020311
Samples
Known GenesF11-AS1, FAT1, MTNR1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596417
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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