A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516415



Internal ID15097022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13788777..14210788hg38UCSC Ensembl
Innerchr5:13788886..14210897hg19UCSC Ensembl
Innerchr5:13841886..14263897hg18UCSC Ensembl
Innerchr5:13841886..14263897hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38422012
hg19422012
hg18422012
hg17422012
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv658215, nssv703364, nssv690137, nssv692878, nssv671451, nssv699697, nssv704787, nssv696287, nssv668217, nssv681786, nssv693944
Samples
Known GenesDNAH5, TRIO
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516415
Frequency
Sample Size2026
Observed Gain7
Observed Loss4
Observed Complex0
Frequencyn/a


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