A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701488



Internal ID15091454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:186647354..186647520hg38UCSC Ensembl
Innerchr3:186365143..186365309hg19UCSC Ensembl
Innerchr3:187847837..187848003hg18UCSC Ensembl
Innerchr3:187847845..187848011hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38167
hg19167
hg18167
hg17167
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525368
Supporting Variants
Samples
Known GenesFETUB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701488
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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