A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15704627



Internal ID21376903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203701010..203701217hg38UCSC Ensembl
chr1:203670138..203670345hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4389392
Supporting Variants
Samples
Known GenesATP2B4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nssv15704627
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0114943


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