A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517120



Internal ID15444413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:31954821..31961859hg38UCSC Ensembl
Innerchr13:32528958..32535996hg19UCSC Ensembl
Innerchr13:31426958..31433996hg18UCSC Ensembl
Innerchr13:31426958..31433996hg17UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg387039
hg197039
hg187039
hg177039
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv689171, nssv667650, nssv691103, nssv657272, nssv653816, nssv691766, nssv656670, nssv652527, nssv655900, nssv686549, nssv688418, nssv684395, nssv688220, nssv680666, nssv681524, nssv670732, nssv666447, nssv673783, nssv658010, nssv679582, nssv677358, nssv669147, nssv675926, nssv655131, nssv662137, nssv683881, nssv685756, nssv652710, nssv662451, nssv689603, nssv665116, nssv653019, nssv673334, nssv675404, nssv667211, nssv675500, nssv678141, nssv665744, nssv682651, nssv675052, nssv684967, nssv684592, nssv656967, nssv671702, nssv658763, nssv669497, nssv691712, nssv691622, nssv665533, nssv663467, nssv658873, nssv682838
Samples
Known GenesEEF1DP3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517120
Frequency
Sample Size2026
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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