A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061408



Internal ID18803939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19554872..19710044hg38UCSC Ensembl
Innerchr17:19458185..19613357hg19UCSC Ensembl
Innerchr17:19398777..19553949hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38155173
hg19155173
hg18155173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3719976
Samples
Known GenesALDH3A2, SLC47A1, SLC47A2, SNORA59A, SNORA59B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061408
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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