A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18210318



Internal ID20777358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:129006001..129049200hg38UCSC Ensembl
chr4:129927156..129970355hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg3843200
hg1943200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6382950
Supporting Variants
Samples
Known GenesSCLT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18210318
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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