A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695427



Internal ID15085393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:55731804..55738235hg38UCSC Ensembl
Innerchr17:53809165..53815596hg19UCSC Ensembl
Innerchr17:51164164..51170595hg18UCSC Ensembl
Innerchr17:51164164..51170595hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg386432
hg196432
hg186432
hg176432
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518015
Supporting Variants
Samples
Known GenesTMEM100
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695427
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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