A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528093



Internal ID8422368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39657827..39709752hg38UCSC Ensembl
Innerchr17:37814080..37866005hg19UCSC Ensembl
Innerchr17:35067606..35119531hg18UCSC Ensembl
Innerchr17:35067606..35119531hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3851926
hg1951926
hg1851926
hg1751926
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704631
Samples
Known GenesERBB2, PGAP3, PNMT, STARD3, TCAP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528093
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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