A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448555



Internal ID226826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10152419..10152516hg38UCSC Ensembl
chr2:10292546..10292643hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909978
Samples
Known GenesC2orf48
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448555
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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