A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549400



Internal ID15990123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236250146..236383086hg38UCSC Ensembl
Innerchr1:236413446..236546386hg19UCSC Ensembl
Innerchr1:234480069..234613009hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38132941
hg19132941
hg18132941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174062
SamplesHGDP00307
Known GenesERO1LB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549400
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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