A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv739705



Internal ID16033661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247991310..247992049hg38UCSC Ensembl
Innerchr1:248154612..248155351hg19UCSC Ensembl
Innerchr1:246221235..246221974hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38740
hg19740
hg18740
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549611
Supporting Variants
Samples
Known GenesOR2L13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv739705
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