A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516514



Internal ID15443807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141097310..141100771hg38UCSC Ensembl
Innerchr5:140476894..140480355hg19UCSC Ensembl
Innerchr5:140457078..140460539hg18UCSC Ensembl
Innerchr5:140457078..140460539hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383462
hg193462
hg183462
hg173462
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695917, nssv676162, nssv668777
Samples
Known GenesPCDHB2, PCDHB3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516514
Frequency
Sample Size2026
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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