A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064939



Internal ID18807470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73835799..74680212hg38UCSC Ensembl
Innerchr17:71831938..72676351hg19UCSC Ensembl
Innerchr17:69343533..70187946hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38844414
hg19844414
hg18844414
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3282n100
Supporting Variantsnssv3567787
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)nsv1064939
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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