A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892963



Internal ID22668019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:192727732..192776327hg38UCSC Ensembl
chr2:193592458..193641053hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3848596
hg1948596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396166
Samples
Known GenesPCGEM1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892963
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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