A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058341



Internal ID18800872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46364104..46674922hg38UCSC Ensembl
Innerchr17:44441470..44752288hg19UCSC Ensembl
Innerchr17:41797212..42107467hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38310819
hg19310819
hg18310256
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3254n100
Supporting Variantsnssv3568506, nssv3568538, nssv3568532, nssv3568529, nssv3568519, nssv3568543, nssv3723847, nssv3568537, nssv3723842, nssv3568541, nssv3568544, nssv3568517, nssv3568535, nssv3568526, nssv3568546, nssv3723839, nssv3723833, nssv3723841, nssv3568533, nssv3723848, nssv3568528, nssv3723849, nssv3568505, nssv3568515, nssv3568523, nssv3568531, nssv3723843, nssv3723832, nssv3723834, nssv3568513, nssv3568514, nssv3568511, nssv3568524, nssv3723840, nssv3568539, nssv3723845, nssv3568545, nssv3568522, nssv3723835, nssv3568530, nssv3568521, nssv3568516, nssv3568509, nssv3568507, nssv3723844, nssv3568510, nssv3568527, nssv3568536, nssv3723837, nssv3723836, nssv3723846, nssv3723838, nssv3568512, nssv3568520, nssv3568542, nssv3568525, nssv3568508, nssv3568518, nssv3568540, nssv3568534
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)nsv1058341
Frequency
Sample Size29084
Observed Gain20
Observed Loss40
Observed Complex0
Frequencyn/a


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