A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063900



Internal ID18806431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10662646..10729182hg38UCSC Ensembl
Innerchr17:10565963..10632499hg19UCSC Ensembl
Innerchr17:10506688..10573224hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3866537
hg1966537
hg1866537
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560350
Samples
Known GenesADPRM, MAGOH2, SCO1, TMEM220
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063900
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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