A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558982



Internal ID332031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195328933..195328984hg38UCSC Ensembl
chr3:195049662..195049713hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381530
hg191530
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16945959
Samples
Known GenesACAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558982
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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