A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444352



Internal ID222727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8157358..8157421hg38UCSC Ensembl
chr2:8297488..8297551hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909652
Samples
Known GenesLINC00299
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444352
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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