A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438137



Internal ID216707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2257647..2259415hg38UCSC Ensembl
chr2:2261419..2263187hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381769
hg191769
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900863
Samples
Known GenesMYT1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438137
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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