A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985647



Internal ID21894990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118973080..118973149hg38UCSC Ensembl
chr2:119730656..119730725hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17518228
Samples
Known GenesMARCO
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985647
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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