A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447425



Internal ID225729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:56310378..56314001hg38UCSC Ensembl
chr2:56537513..56541136hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg383624
hg193624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913863
Samples
Known GenesCCDC85A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447425
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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