A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv651847



Internal ID15388499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:122876930..122891782hg38UCSC Ensembl
Innerchr3:122595777..122610629hg19UCSC Ensembl
Innerchr3:124078467..124093319hg18UCSC Ensembl
Innerchr3:124078467..124093319hg17UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3814853
hg1914853
hg1814853
hg1714853
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517377
Supporting Variants
Samples
Known GenesDIRC2, LOC100129550
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv651847
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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