A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv653335



Internal ID15389987
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515500
Supporting Variants
Samples
Known GenesTMC6, TMC8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv653335
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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