A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055771



Internal ID18798302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46317034..46708304hg38UCSC Ensembl
Innerchr17:44394400..44785670hg19UCSC Ensembl
Innerchr17:41750175..42140851hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38391271
hg19391271
hg18390677
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3254n100
Supporting Variantsnssv3723636, nssv3723635, nssv3563383, nssv3563380, nssv3563377, nssv3563381, nssv3563378, nssv3723637, nssv3563382, nssv3563379
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)nsv1055771
Frequency
Sample Size29084
Observed Gain4
Observed Loss6
Observed Complex0
Frequencyn/a


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