A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549607



Internal ID16337016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247991259..247991997hg38UCSC Ensembl
Innerchr1:248154561..248155299hg19UCSC Ensembl
Innerchr1:246221184..246221922hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38739
hg19739
hg18739
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv901n54
Supporting Variantsnssv739687, nssv739684, nssv739688, nssv739686, nssv739685
Samples
Known GenesOR2L13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549607
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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