A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448881



Internal ID227136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99121779..99182757hg38UCSC Ensembl
chr2:99738242..99799220hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3860979
hg1960979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918499
Samples
Known GenesC2orf15, LIPT1, MITD1, MRPL30, TSGA10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448881
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer