A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457628



Internal ID235669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79528000..80607325hg38UCSC Ensembl
chr5:78823823..79903144hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381079326
hg191079322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967005
Samples
Known GenesANKRD34B, CMYA5, CRSP8P, FAM151B, LOC644936, MTX3, PAPD4, SERINC5, SPZ1, THBS4, ZFYVE16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457628
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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