A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208314



Internal ID20775354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202754485..202780623hg38UCSC Ensembl
chr2:203619208..203645346hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3826139
hg1926139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6349348
Supporting Variants
Samples
Known GenesFAM117B, ICA1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208314
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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