A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487040



Internal ID264389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74904779..74927000hg38UCSC Ensembl
chr7:74320884..74342006hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3822222
hg1921123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001033
Samples
Known GenesPMS2P5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487040
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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