A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv657458



Internal ID15047424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:121700454..121947103hg38UCSC Ensembl
Innerchr3:121419301..121665950hg19UCSC Ensembl
Innerchr3:122901991..123148640hg18UCSC Ensembl
Innerchr3:122901991..123148640hg17UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38246650
hg19246650
hg18246650
hg17246650
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516233
Supporting Variants
Samples
Known GenesEAF2, GOLGB1, IQCB1, SLC15A2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv657458
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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