A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5887649



Internal ID22662642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241662740..241662792hg38UCSC Ensembl
chr2:242602155..242602207hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17408985
Samples
Known GenesATG4B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5887649
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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