A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546454



Internal ID15987177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:70028533..70101298hg38UCSC Ensembl
Innerchr1:70494216..70566981hg19UCSC Ensembl
Innerchr1:70266804..70339569hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3872766
hg1972766
hg1872766
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv305n54
Supporting Variantsnssv1173013
Samples1780862459_A
Known GenesLRRC7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546454
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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