A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547748



Internal ID15988471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143550435..143742404hg38UCSC Ensembl
Innerchr1:149045105..149237059hg19UCSC Ensembl
Innerchr1:147311729..147503683hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38191970
hg19191955
hg18191955
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv540n54
Supporting Variantsnssv723310
Samples
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547748
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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