A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18220448



Internal ID20787488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105545970..105554091hg38UCSC Ensembl
chr7:105186417..105194538hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg388122
hg198122
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6616709
Supporting Variants
Samples
Known GenesRINT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18220448
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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