A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563003



Internal ID335941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73860042..73860093hg38UCSC Ensembl
chr2:74087169..74087220hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg381155
hg191155
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914057
Samples
Known GenesSTAMBP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563003
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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