A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492185



Internal ID269405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44221432..44221560hg38UCSC Ensembl
chr7:44261031..44261159hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16997339
Samples
Known GenesCAMK2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492185
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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