A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448325



Internal ID226604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101183386..101193845hg38UCSC Ensembl
chr2:101799848..101810307hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3810460
hg1910460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917023
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448325
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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