A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516176



Internal ID15443469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:137131530..137572207hg38UCSC Ensembl
Innerchr4:138052684..138493361hg19UCSC Ensembl
Innerchr4:138272134..138712811hg18UCSC Ensembl
Innerchr4:138410289..138850966hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38440678
hg19440678
hg18440678
hg17440678
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv673572, nssv685714, nssv659809, nssv700682, nssv659251, nssv698797, nssv681898, nssv698989, nssv691528, nssv677600, nssv685668, nssv688429, nssv654850, nssv679926, nssv666632, nssv675217, nssv659307, nssv667507, nssv690005, nssv667155, nssv674614, nssv676666
Samples
Known GenesPCDH18
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516176
Frequency
Sample Size2026
Observed Gain2
Observed Loss20
Observed Complex0
Frequencyn/a


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