A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440731



Internal ID219232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:6833045..6845996hg38UCSC Ensembl
chr2:6973176..6986127hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3812952
hg1912952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909338
Samples
Known GenesCMPK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440731
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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