A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549612



Internal ID16337021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247991310..247992153hg38UCSC Ensembl
Innerchr1:248154612..248155455hg19UCSC Ensembl
Innerchr1:246221235..246222078hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38844
hg19844
hg18844
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv901n54
Supporting Variantsnssv739709, nssv739711, nssv739712, nssv739708, nssv739710, nssv739714, nssv739715, nssv739717, nssv739707, nssv739716, nssv739713
Samples
Known GenesOR2L13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549612
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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