A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547793



Internal ID15988516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143591416..143751464hg38UCSC Ensembl
Innerchr1:149086077..149246114hg19UCSC Ensembl
Innerchr1:147352701..147512738hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38160049
hg19160038
hg18160038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv540n54
Supporting Variantsnssv723422, nssv723420, nssv723421, nssv723419, nssv723417, nssv723418
Samples
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547793
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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