A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546947



Internal ID16334356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103525452..103526545hg38UCSC Ensembl
Innerchr1:104068074..104069167hg19UCSC Ensembl
Innerchr1:103840662..103841755hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg381094
hg191094
hg181094
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv391n54
Supporting Variantsnssv719721
Samples
Known GenesLOC101928436, RNPC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546947
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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