A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546453



Internal ID15987176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:70010111..70085656hg38UCSC Ensembl
Innerchr1:70475794..70551339hg19UCSC Ensembl
Innerchr1:70248382..70323927hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3875546
hg1975546
hg1875546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv305n54
Supporting Variantsnssv1173012
Samples1780862003_A
Known GenesLRRC7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546453
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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