A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056817



Internal ID18799348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46286792..46707300hg38UCSC Ensembl
Innerchr17:44364158..44784666hg19UCSC Ensembl
Innerchr17:41719935..42139849hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38420509
hg19420509
hg18419915
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3251n100
Supporting Variantsnssv3565906
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)nsv1056817
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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