A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516462



Internal ID15443755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17469355..17680982hg38UCSC Ensembl
Innerchr5:17469464..17681091hg19UCSC Ensembl
Innerchr5:17522464..17713838hg18UCSC Ensembl
Innerchr5:17522464..17713838hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38211628
hg19211628
hg18191375
hg17191375
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv657172, nssv681704, nssv698572, nssv688111, nssv670568, nssv680158, nssv690900, nssv663084, nssv652942, nssv677101, nssv660906, nssv672329, nssv653910, nssv672058, nssv660800, nssv700806, nssv669909, nssv676598, nssv663711, nssv687705, nssv660941, nssv668565, nssv687182, nssv698261, nssv704495, nssv661451, nssv703713, nssv656678, nssv666723, nssv657876
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516462
Frequency
Sample Size2026
Observed Gain1
Observed Loss29
Observed Complex0
Frequencyn/a


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