A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521217



Internal ID8415492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88805821..89174375hg38UCSC Ensembl
Innerchr16:88872229..89240783hg19UCSC Ensembl
Innerchr16:87399730..87768284hg18UCSC Ensembl
Innerchr16:87399730..87768284hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38368555
hg19368555
hg18368555
hg17368555
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697850
Samples
Known GenesACSF3, APRT, CBFA2T3, CDH15, CDT1, GALNS, LINC00304, LOC400558, PABPN1L, TRAPPC2L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521217
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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