A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064352



Internal ID18806883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46284631..46563264hg38UCSC Ensembl
Innerchr17:44361997..44640630hg19UCSC Ensembl
Innerchr17:41717774..41995946hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38278634
hg19278634
hg18278173
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3248n100
Supporting Variantsnssv3565784, nssv3565785
Samples
Known GenesARL17A, ARL17B, 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)nsv1064352
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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