A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060084



Internal ID19149303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:763991..832628hg38UCSC Ensembl
Innerchr17:667231..735868hg19UCSC Ensembl
Innerchr17:613981..682618hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3868638
hg1968638
hg1868638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560048
Samples
Known GenesGLOD4, NXN, RNMTL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060084
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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