A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440705



Internal ID219206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74560968..74562003hg38UCSC Ensembl
chr2:74788095..74789130hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg381036
hg191036
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914110
Samples
Known GenesM1AP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440705
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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