A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv688429



Internal ID15078395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:137142928..137572207hg38UCSC Ensembl
Innerchr4:138064082..138493361hg19UCSC Ensembl
Innerchr4:138283532..138712811hg18UCSC Ensembl
Innerchr4:138421687..138850966hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38429280
hg19429280
hg18429280
hg17429280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516176
Supporting Variants
Samples
Known GenesPCDH18
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv688429
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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