A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436996



Internal ID215599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200763961..200767334hg38UCSC Ensembl
chr1:200733089..200736462hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383374
hg193374
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895521
Samples
Known GenesCAMSAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436996
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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