A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551962



Internal ID325380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125847077..125847114hg38UCSC Ensembl
chr6:126168223..126168260hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969341
Samples
Known GenesNCOA7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551962
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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