A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18211724



Internal ID20778764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70714621..70822630hg38UCSC Ensembl
chr4:71580338..71688347hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38108010
hg19108010
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6381077
Supporting Variants
Samples
Known GenesGRSF1, RUFY3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18211724
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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