A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065237



Internal ID18807768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4040089..4278208hg38UCSC Ensembl
Innerchr17:3943383..4181503hg19UCSC Ensembl
Innerchr17:3890132..4128252hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38238120
hg19238121
hg18238121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560118
Samples
Known GenesANKFY1, CYB5D2, UBE2G1, ZZEF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065237
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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