A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447496



Internal ID225799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241235910..241235972hg38UCSC Ensembl
chr2:242175325..242175387hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927190
Samples
Known GenesHDLBP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447496
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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