A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471074



Internal ID248819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136991168..136991250hg38UCSC Ensembl
chr6:137312305..137312387hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969237
Samples
Known GenesNHEG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471074
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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