A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549434



Internal ID15990157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:239187428..239401382hg38UCSC Ensembl
Innerchr1:239350728..239564682hg19UCSC Ensembl
Innerchr1:237417351..237631305hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38213955
hg19213955
hg18213955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv738870
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549434
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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