A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447036



Internal ID225350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176600011..176609725hg38UCSC Ensembl
chr2:177464739..177474453hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg389715
hg199715
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927317
Samples
Known GenesMIR1246
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447036
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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