A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5906997



Internal ID22682201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124250782..124252350hg38UCSC Ensembl
chr3:123969629..123971197hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg381569
hg191569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401210
Samples
Known GenesKALRN
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5906997
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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