A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457081



Internal ID235136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76225957..76275736hg38UCSC Ensembl
chr5:75521782..75571561hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3849780
hg1949780
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967175
Samples
Known GenesSV2C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457081
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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