A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546480



Internal ID16333889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72084153..72217543hg38UCSC Ensembl
Innerchr1:72549836..72683226hg19UCSC Ensembl
Innerchr1:72322424..72455814hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38133391
hg19133391
hg18133391
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv310n54
Supporting Variantsnssv716173, nssv716174
Samples
Known GenesNEGR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546480
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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