A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549624



Internal ID15990347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248123054..248179535hg38UCSC Ensembl
Innerchr1:248286356..248342837hg19UCSC Ensembl
Innerchr1:246352979..246409460hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3856482
hg1956482
hg1856482
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739732
Samples
Known GenesOR2M5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549624
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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