A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470588



Internal ID248343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:66000170..66000253hg38UCSC Ensembl
chr5:65295998..65296081hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968321
Samples
Known GenesERBB2IP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470588
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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