A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055161



Internal ID18797692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73837807..74689013hg38UCSC Ensembl
Innerchr17:71833946..72685152hg19UCSC Ensembl
Innerchr17:69345541..70196747hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38851207
hg19851207
hg18851207
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3282n100
Supporting Variantsnssv3567798, nssv3567797
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)nsv1055161
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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