A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057534



Internal ID18800065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46317034..46707274hg38UCSC Ensembl
Innerchr17:44394400..44784640hg19UCSC Ensembl
Innerchr17:41750175..42139823hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38390241
hg19390241
hg18389649
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3255n100
Supporting Variantsnssv3563364
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)nsv1057534
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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