A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058232



Internal ID18800763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46199005..46666626hg38UCSC Ensembl
Innerchr17:44276371..44743992hg19UCSC Ensembl
Innerchr17:41632148..42099176hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38467622
hg19467622
hg18467029
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3196n100
Supporting Variantsnssv3557452, nssv3557451
Samples
Known GenesARL17A, ARL17B, KANSL1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058232
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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