A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468609



Internal ID246404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:37468164..37468988hg38UCSC Ensembl
chr6:37435940..37436764hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38825
hg19825
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982152
Samples
Known GenesCMTR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468609
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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