A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5908214



Internal ID22683424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128911033..128911084hg38UCSC Ensembl
chr9:131673312..131673363hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17444700
Samples
Known GenesLRRC8A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5908214
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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