A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549629



Internal ID16337038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248196724..248272529hg38UCSC Ensembl
Innerchr1:248360026..248435831hg19UCSC Ensembl
Innerchr1:246426649..246502454hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3875806
hg1975806
hg1875806
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739737
Samples
Known GenesOR2M3, OR2M4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549629
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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