A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456045



Internal ID234115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:173249923..173255241hg38UCSC Ensembl
chr4:174171074..174176392hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg385319
hg195319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16961028
Samples
Known GenesGALNT7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456045
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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