A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515635



Internal ID15096242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:36274050..36290412hg38UCSC Ensembl
Innerchr13:36848187..36864549hg19UCSC Ensembl
Innerchr13:35746187..35762549hg18UCSC Ensembl
Innerchr13:35746187..35762549hg17UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3816363
hg1916363
hg1816363
hg1716363
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv655359, nssv679139, nssv691605, nssv701419, nssv692166, nssv661998, nssv664181, nssv691437, nssv655988, nssv665245, nssv685809
Samples
Known GenesCCDC169, CCDC169-SOHLH2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515635
Frequency
Sample Size2026
Observed Gain6
Observed Loss5
Observed Complex0
Frequencyn/a


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