A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059053



Internal ID18801584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:429875..881396hg38UCSC Ensembl
Innerchr17:279666..784636hg19UCSC Ensembl
Innerchr17:279882..731386hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38451522
hg19504971
hg18451505
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3072n100
Supporting Variantsnssv3560039
Samples
Known GenesDBIL5P, FAM101B, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1, VPS53
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059053
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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