A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067319



Internal ID18809850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73838033..74681161hg38UCSC Ensembl
Innerchr17:71834172..72677300hg19UCSC Ensembl
Innerchr17:69345767..70188895hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38843129
hg19843129
hg18843129
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3282n100
Supporting Variantsnssv3725162
Samples
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, DNAI2, GPR142, GPRC5C, KIF19, MGC16275, RAB37, RPL38, TTYH2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067319
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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