A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523981



Internal ID15104588
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699837
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)nsv523981
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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