A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546810



Internal ID15987533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91750168..92133148hg38UCSC Ensembl
Innerchr1:92215725..92598705hg19UCSC Ensembl
Innerchr1:91988313..92371293hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38382981
hg19382981
hg18382981
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv365n54
Supporting Variantsnssv1173061
Samples1780862574_A
Known GenesBRDT, BTBD8, EPHX4, TGFBR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546810
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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