A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517703



Internal ID15444996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70102540..70217492hg38UCSC Ensembl
Innerchr4:70968257..71083209hg19UCSC Ensembl
Innerchr4:71002846..71117798hg18UCSC Ensembl
Innerchr4:71149017..71263969hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38114953
hg19114953
hg18114953
hg17114953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv652903, nssv669199, nssv687895, nssv678080, nssv685384, nssv663710, nssv663954, nssv693579, nssv683960, nssv671590, nssv686114, nssv687502
Samples
Known GenesC4orf40, CSN1S2BP, ODAM
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517703
Frequency
Sample Size2026
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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