A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055735



Internal ID18798266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82905981..83048753hg38UCSC Ensembl
Innerchr17:80863857..81006629hg19UCSC Ensembl
Innerchr17:78457146..78599918hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38142773
hg19142773
hg18142773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3297n100
Supporting Variantsnssv3567904
Samples
Known GenesB3GNTL1, TBCD
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055735
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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