A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889375



Internal ID22664392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135287747..135289780hg38UCSC Ensembl
chr6:135608885..135610918hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg382034
hg192034
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17418514
Samples
Known GenesAHI1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889375
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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