A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057197



Internal ID18799728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46270361..46666626hg38UCSC Ensembl
Innerchr17:44347727..44743992hg19UCSC Ensembl
Innerchr17:41703504..42099176hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38396266
hg19396266
hg18395673
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3233n100
Supporting Variantsnssv3564534, nssv3564533, nssv3725473
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)nsv1057197
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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