A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205507



Internal ID20772547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148354497..148385285hg38UCSC Ensembl
chr2:149112066..149142854hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3830789
hg1930789
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6349147
Supporting Variants
Samples
Known GenesMBD5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205507
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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