A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700350



Internal ID15437002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:105544971..105570354hg38UCSC Ensembl
Innerchr4:106466128..106491511hg19UCSC Ensembl
Innerchr4:106685577..106710960hg18UCSC Ensembl
Innerchr4:106823732..106849115hg17UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3825384
hg1925384
hg1825384
hg1725384
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524424
Supporting Variants
Samples
Known GenesARHGEF38, ARHGEF38-IT1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700350
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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