A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447986



Internal ID226274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130077000..130246000hg38UCSC Ensembl
chr2:130834573..131003573hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38169001
hg19169001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919175
Samples
Known GenesCCDC74B, MED15P9, MZT2B, POTEF, SMPD4, TUBA3E
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447986
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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