A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213675



Internal ID20780715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:44447001..44449200hg38UCSC Ensembl
chr4:44449018..44451217hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg382200
hg192200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6375946
Supporting Variants
Samples
Known GenesKCTD8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213675
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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