A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061747



Internal ID18804278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4101015..4175127hg38UCSC Ensembl
Innerchr17:4004309..4078422hg19UCSC Ensembl
Innerchr17:3951058..4025171hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3874113
hg1974114
hg1874114
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3086n100
Supporting Variantsnssv3560119, nssv3560120
Samples
Known GenesANKFY1, CYB5D2, ZZEF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061747
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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