A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057867



Internal ID18800398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46177128hg38UCSC Ensembl
Innerchr17:44165803..44254494hg19UCSC Ensembl
Innerchr17:41521621..41610271hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3888692
hg1988692
hg1888651
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3186n100
Supporting Variantsnssv3546218, nssv3546223, nssv3546210, nssv3546219, nssv3720313, nssv3546212, nssv3546216, nssv3720311, nssv3546225, nssv3546222, nssv3546217, nssv3720312, nssv3546209, nssv3720308, nssv3546211, nssv3546224, nssv3546220, nssv3546214, nssv3720309, nssv3720310, nssv3546213, nssv3546215, nssv3546221
Samples
Known GenesKANSL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057867
Frequency
Sample Size29084
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer