A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4738599



Internal ID20514569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142677045..142677384hg38UCSC Ensembl
chr2:143434614..143434953hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16287704
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4738599
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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