A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058366



Internal ID18800897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46267481..46640527hg38UCSC Ensembl
Innerchr17:44344847..44717893hg19UCSC Ensembl
Innerchr17:41700624..42073209hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38373047
hg19373047
hg18372586
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3250n100
Supporting Variantsnssv3725399, nssv3564260, nssv3564263, nssv3564264, nssv3564259, nssv3564261, nssv3564262, nssv3564266, nssv3564265
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)nsv1058366
Frequency
Sample Size29084
Observed Gain5
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer