A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695917



Internal ID15432569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141097310..141100038hg38UCSC Ensembl
Innerchr5:140476894..140479622hg19UCSC Ensembl
Innerchr5:140457078..140459806hg18UCSC Ensembl
Innerchr5:140457078..140459806hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382729
hg192729
hg182729
hg172729
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516514
Supporting Variants
Samples
Known GenesPCDHB2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695917
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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