A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547679



Internal ID15988402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148234420..148386788hg38UCSC Ensembl
Innerchr1:147706692..147858944hg19UCSC Ensembl
Innerchr1:146173316..146325568hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38152369
hg19152253
hg18152253
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv723085
Samples
Known GenesMIR5087, NBPF10, NBPF8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547679
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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