A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057805



Internal ID18800336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46267481..46666626hg38UCSC Ensembl
Innerchr17:44344847..44743992hg19UCSC Ensembl
Innerchr17:41700624..42099176hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38399146
hg19399146
hg18398553
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3250n100
Supporting Variantsnssv3564280, nssv3564281, nssv3564283, nssv3725400, nssv3564282, nssv3564279, nssv3725401
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)nsv1057805
Frequency
Sample Size29084
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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