A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6373070



Internal ID21030623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99649279..99679439hg38UCSC Ensembl
chr3:99368123..99398283hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3830161
hg1930161
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18211311
Samples
Known GenesCOL8A1, MIR548G
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6373070
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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