A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6352347



Internal ID21009900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33330392..33335283hg38UCSC Ensembl
chr2:33555459..33560350hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg384892
hg194892
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18085939
Samples
Known GenesLTBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6352347
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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