A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575206



Internal ID16015929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46178930..46193373hg38UCSC Ensembl
Innerchr17:44256296..44270739hg19UCSC Ensembl
Innerchr17:41612073..41626516hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3814444
hg1914444
hg1814444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5631n54
Supporting Variantsnssv872458
Samples
Known GenesKANSL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575206
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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