A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060979



Internal ID18803510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46135838..46588293hg38UCSC Ensembl
Innerchr17:44213204..44665659hg19UCSC Ensembl
Innerchr17:41568981..42020975hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38452456
hg19452456
hg18451995
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3196n100
Supporting Variantsnssv3723869, nssv3723868
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060979
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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