A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547684



Internal ID16335093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:120841488..120901893hg38UCSC Ensembl
Innerchr1:147943289..148003653hg19UCSC Ensembl
Innerchr1:146409913..146470277hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3860406
hg1960365
hg1860365
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv723090
Samples
Known GenesNBPF10, NBPF8, PPIAL4A, PPIAL4B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547684
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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