A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515611



Internal ID15096218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115873146..116092684hg38UCSC Ensembl
Innerchr5:115208843..115428381hg19UCSC Ensembl
Innerchr5:115236742..115456280hg18UCSC Ensembl
Innerchr5:115236742..115456280hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38219539
hg19219539
hg18219539
hg17219539
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv664486, nssv687597, nssv664092, nssv691124, nssv679527, nssv702833, nssv700710, nssv681585, nssv663527, nssv680377, nssv679600
Samples
Known GenesAP3S1, AQPEP, ARL14EPL, COMMD10
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515611
Frequency
Sample Size2026
Observed Gain3
Observed Loss8
Observed Complex0
Frequencyn/a


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