A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472111



Internal ID249830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6468474..6469404hg38UCSC Ensembl
chr7:6508105..6509035hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38931
hg19931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16991629
Samples
Known GenesKDELR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472111
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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