A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062424



Internal ID18804955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46284631..46666626hg38UCSC Ensembl
Innerchr17:44361997..44743992hg19UCSC Ensembl
Innerchr17:41717774..42099176hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38381996
hg19381996
hg18381403
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3250n100
Supporting Variantsnssv3725558, nssv3565802, nssv3565807, nssv3565804, nssv3565803, nssv3565801, nssv3565805, nssv3565806
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)nsv1062424
Frequency
Sample Size29084
Observed Gain1
Observed Loss7
Observed Complex0
Frequencyn/a


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