A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445322



Internal ID223675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173278336..173278687hg38UCSC Ensembl
chr2:174143064..174143415hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927255
Samples
Known GenesMLK7-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445322
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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