A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549617



Internal ID16337026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247991550..247992153hg38UCSC Ensembl
Innerchr1:248154852..248155455hg19UCSC Ensembl
Innerchr1:246221475..246222078hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38604
hg19604
hg18604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv902n54
Supporting Variantsnssv739725
Samples
Known GenesOR2L13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549617
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