A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546474



Internal ID15987197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:71327538..71574671hg38UCSC Ensembl
Innerchr1:71793221..72040354hg19UCSC Ensembl
Innerchr1:71565809..71812942hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38247134
hg19247134
hg18247134
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv716169
Samples
Known GenesNEGR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546474
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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