A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699837



Internal ID15089803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:48478880..48683607hg38UCSC Ensembl
Innerchr3:48520289..48721040hg19UCSC Ensembl
Innerchr3:48495293..48696044hg18UCSC Ensembl
Innerchr3:48495293..48696044hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38204728
hg19200752
hg18200752
hg17200752
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523981
Supporting Variants
Samples
Known GenesCELSR3, COL7A1, MIR4793, MIR6823, MIR6824, MIR711, NCKIPSD, PFKFB4, SHISA5, SLC26A6, TMEM89, UCN2, UQCRC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699837
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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