A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5897526



Internal ID22672630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:131032974..131034687hg38UCSC Ensembl
chr3:130751818..130753531hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381714
hg191714
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399559
Samples
Known GenesNEK11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5897526
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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