A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055511



Internal ID19144730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:14042329..14191370hg38UCSC Ensembl
Innerchr17:13945646..14094687hg19UCSC Ensembl
Innerchr17:13886371..14035412hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38149042
hg19149042
hg18149042
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3719175
Samples
Known GenesCOX10, COX10-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055511
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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