A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056839



Internal ID18799370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28348199..28428188hg38UCSC Ensembl
Innerchr17:26675225..26755206hg19UCSC Ensembl
Innerchr17:23699352..23779333hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3879990
hg1979982
hg1879982
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3561043
Samples
Known GenesMIR4723, POLDIP2, SARM1, SEBOX, SLC46A1, TMEM199, VTN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056839
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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