A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442629



Internal ID221051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:211486447..211551030hg38UCSC Ensembl
chr2:212351172..212415755hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3864584
hg1964584
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924487
Samples
Known GenesERBB4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442629
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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