A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438991



Internal ID217541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172309463..172315117hg38UCSC Ensembl
chr2:173174191..173179845hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg385655
hg195655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922278
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438991
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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