A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549386



Internal ID15990109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234608891..234609525hg38UCSC Ensembl
Innerchr1:234744637..234745271hg19UCSC Ensembl
Innerchr1:232811260..232811894hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38635
hg19635
hg18635
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv863n54
Supporting Variantsnssv738175
Samples
Known GenesIRF2BP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549386
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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