A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4744968



Internal ID20520972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238783397..238783639hg38UCSC Ensembl
chr2:239692038..239692280hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16276901
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4744968
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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