A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546658



Internal ID16334067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:80071113..80217921hg38UCSC Ensembl
Innerchr1:80536798..80683606hg19UCSC Ensembl
Innerchr1:80309386..80456194hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38146809
hg19146809
hg18146809
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv341n54
Supporting Variantsnssv1173041
Samples1780854449_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546658
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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