A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439214



Internal ID217754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4825187..4825261hg38UCSC Ensembl
chr3:4866871..4866945hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16929961
Samples
Known GenesITPR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439214
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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