A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546475



Internal ID15987198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:71383354..71472011hg38UCSC Ensembl
Innerchr1:71849037..71937694hg19UCSC Ensembl
Innerchr1:71621625..71710282hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3888658
hg1988658
hg1888658
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173017, nssv1173016
SamplesHGDP01234, HGDP01242
Known GenesNEGR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546475
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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