A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064006



Internal ID18806537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:1189272..1339670hg38UCSC Ensembl
Innerchr17:1092566..1242964hg19UCSC Ensembl
Innerchr17:1039316..1189714hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38150399
hg19150399
hg18150399
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560069
Samples
Known GenesBHLHA9, TUSC5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064006
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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