A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055962



Internal ID18798493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46144772..46674922hg38UCSC Ensembl
Innerchr17:44222138..44752288hg19UCSC Ensembl
Innerchr17:41577915..42107467hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38530151
hg19530151
hg18529553
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3196n100
Supporting Variantsnssv3724173, nssv3724172, nssv3556800, nssv3556799, nssv3556798, nssv3556801
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, 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)nsv1055962
Frequency
Sample Size29084
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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