A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548577



Internal ID16335986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191226670..191752333hg38UCSC Ensembl
Innerchr1:191195800..191721463hg19UCSC Ensembl
Innerchr1:189462423..189988086hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38525664
hg19525664
hg18525664
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv732591
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548577
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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