A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451810



Internal ID229980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11327221..11328750hg38UCSC Ensembl
chr2:11467347..11468876hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381530
hg191530
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710950
Samples
Known GenesROCK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451810
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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