A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057456



Internal ID18799987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46142189..46619139hg38UCSC Ensembl
Innerchr17:44219555..44696505hg19UCSC Ensembl
Innerchr17:41575332..42051821hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38476951
hg19476951
hg18476490
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3198n100
Supporting Variantsnssv3724098
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)nsv1057456
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