A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058819



Internal ID18801350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73829384..74695789hg38UCSC Ensembl
Innerchr17:71825523..72691928hg19UCSC Ensembl
Innerchr17:69337118..70203523hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38866406
hg19866406
hg18866406
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3282n100
Supporting Variantsnssv3567785, nssv3725159
Samples
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, CD300LF, 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)nsv1058819
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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