A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752864



Internal ID20528724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238783397..238783397hg38UCSC Ensembl
chr2:239692038..239692038hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16283191
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752864
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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