A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697253



Internal ID15087219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70296786..70402393hg38UCSC Ensembl
Innerchr4:71162503..71268110hg19UCSC Ensembl
Innerchr4:71197092..71302699hg18UCSC Ensembl
Innerchr4:71343263..71448870hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38105608
hg19105608
hg18105608
hg17105608
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520156
Supporting Variants
Samples
Known GenesCABS1, PROL1, SMR3A, SMR3B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697253
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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