A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058176



Internal ID18800707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4189086..4502476hg38UCSC Ensembl
Innerchr17:4092381..4405771hg19UCSC Ensembl
Innerchr17:4039130..4352520hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38313391
hg19313391
hg18313391
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560124
Samples
Known GenesANKFY1, SPNS2, SPNS3, UBE2G1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058176
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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