A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5868468



Internal ID22643404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69968185..69978436hg38UCSC Ensembl
chr2:70195317..70205568hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3810252
hg1910252
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409436
Samples
Known GenesPCBP1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5868468
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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