A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548696



Internal ID16336105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194602714..194668626hg38UCSC Ensembl
Innerchr1:194571844..194637756hg19UCSC Ensembl
Innerchr1:192838467..192904379hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3865913
hg1965913
hg1865913
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv725n54
Supporting Variantsnssv733897
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548696
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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