A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546478



Internal ID16333887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:71976335..72046708hg38UCSC Ensembl
Innerchr1:72442018..72512391hg19UCSC Ensembl
Innerchr1:72214606..72284979hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3870374
hg1970374
hg1870374
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv716171
Samples
Known GenesNEGR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546478
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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