A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520048



Internal ID15447341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:70118818..70124665hg38UCSC Ensembl
Innerchr17:68114959..68120806hg19UCSC Ensembl
Innerchr17:65626554..65632401hg18UCSC Ensembl
Innerchr17:65626554..65632401hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg385848
hg195848
hg185848
hg175848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697195
Samples
Known GenesKCNJ16
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520048
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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