A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062767



Internal ID18805298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46317034..46660244hg38UCSC Ensembl
Innerchr17:44394400..44737610hg19UCSC Ensembl
Innerchr17:41750175..42092926hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38343211
hg19343211
hg18342752
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3254n100
Supporting Variantsnssv3566037, nssv3566029, nssv3566042, nssv3566044, nssv3566034, nssv3725594, nssv3566039, nssv3566035, nssv3566031, nssv3566033, nssv3566036, nssv3725595, nssv3566030, nssv3566041, nssv3566040, nssv3566032, nssv3566038, nssv3566043
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)nsv1062767
Frequency
Sample Size29084
Observed Gain6
Observed Loss12
Observed Complex0
Frequencyn/a


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