A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434239



Internal ID212919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135648568..135648655hg38UCSC Ensembl
chr2:136406138..136406225hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918845
Samples
Known GenesR3HDM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434239
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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