A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444922



Internal ID223286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123696002..123697752hg38UCSC Ensembl
chr3:123414849..123416599hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381751
hg191751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16938758
Samples
Known GenesMYLK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444922
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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