A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434103



Internal ID212789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60763667..60876164hg38UCSC Ensembl
chr2:60990802..61103299hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38112498
hg19112498
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914872
Samples
Known GenesFLJ16341, PAPOLG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434103
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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