A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066835



Internal ID18809366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46202033..46640527hg38UCSC Ensembl
Innerchr17:44279399..44717893hg19UCSC Ensembl
Innerchr17:41635176..42073209hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38438495
hg19438495
hg18438034
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3196n100
Supporting Variantsnssv3557458, nssv3557459, nssv3557460
Samples
Known GenesARL17A, ARL17B, KANSL1, LOC644172, 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)nsv1066835
Frequency
Sample Size29084
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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