A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065014



Internal ID18807545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46427863..46666626hg38UCSC Ensembl
Innerchr17:44505229..44743992hg19UCSC Ensembl
Innerchr17:41860664..42099176hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38238764
hg19238764
hg18238513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3257n100
Supporting Variantsnssv3724963
Samples
Known GenesARL17A, ARL17B, 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)nsv1065014
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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