A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5901397



Internal ID22676547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:122568783..122572310hg38UCSC Ensembl
chr2:123326359..123329886hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg383528
hg193528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397878
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5901397
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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