A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515500



Internal ID15443111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:78121280..78139331hg38UCSC Ensembl
Innerchr17:76117361..76135412hg19UCSC Ensembl
Innerchr17:73628956..73647007hg18UCSC Ensembl
Innerchr17:73628956..73647007hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3818052
hg1918052
hg1818052
hg1718052
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv658972, nssv653335
Samples
Known GenesTMC6, TMC8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515500
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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