A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462700



Internal ID240624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42175821..42188260hg38UCSC Ensembl
chr6:42143559..42155998hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3812440
hg1912440
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981599
Samples
Known GenesGUCA1A, GUCA1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462700
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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