A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445538



Internal ID223885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241733049..241747519hg38UCSC Ensembl
chr2:242672464..242686934hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3814471
hg1914471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928834
Samples
Known GenesD2HGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445538
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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