A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558653



Internal ID331711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7442216..7442267hg38UCSC Ensembl
chr1:7502276..7502327hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg383280
hg193280
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908506
Samples
Known GenesCAMTA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558653
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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