A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547324



Internal ID16334733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:106067235..106265015hg38UCSC Ensembl
Innerchr1:106609857..106807637hg19UCSC Ensembl
Innerchr1:106411380..106609160hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38197781
hg19197781
hg18197781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv720713
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547324
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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