A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066634



Internal ID18809165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46131308..46323689hg38UCSC Ensembl
Innerchr17:44208674..44401055hg19UCSC Ensembl
Innerchr17:41564451..41756820hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38192382
hg19192382
hg18192370
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3214n100
Supporting Variantsnssv3721066, nssv3721065, nssv3549998, nssv3721067
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066634
Frequency
Sample Size29084
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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