A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060166



Internal ID18802697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46317034..46707300hg38UCSC Ensembl
Innerchr17:44394400..44784666hg19UCSC Ensembl
Innerchr17:41750175..42139849hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38390267
hg19390267
hg18389675
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3254n100
Supporting Variantsnssv3563369, nssv3563372, nssv3563366, nssv3563368, nssv3563370, nssv3563371, nssv3563365, nssv3563367
Samples
Known GenesARL17A, ARL17B, 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)nsv1060166
Frequency
Sample Size29084
Observed Gain4
Observed Loss4
Observed Complex0
Frequencyn/a


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