A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441047



Internal ID219534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38660182..38726330hg38UCSC Ensembl
chr2:38887324..38953472hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3866149
hg1966149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912475
Samples
Known GenesGALM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441047
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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