A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061530



Internal ID18804061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46331284..46596297hg38UCSC Ensembl
Innerchr17:44408650..44673663hg19UCSC Ensembl
Innerchr17:41764411..42028979hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38265014
hg19265014
hg18264569
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3253n100
Supporting Variantsnssv3567105, nssv3567106, nssv3567107, nssv3567108
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)nsv1061530
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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