A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488329



Internal ID265644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75474779..75515200hg38UCSC Ensembl
chr7:75104045..75144525hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3840422
hg1940481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv473n206
Supporting Variantsnssv17001096
Samples
Known GenesPMS2P3, POM121C, SPDYE5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488329
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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