A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575327



Internal ID16016050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46355489..46469607hg38UCSC Ensembl
Innerchr17:44432855..44546973hg19UCSC Ensembl
Innerchr17:41788595..41902289hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38114119
hg19114119
hg18113695
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5646n54
Supporting Variantsnssv872672, nssv872671, nssv872673
Samples
Known GenesARL17A, ARL17B, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575327
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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