A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5917470



Internal ID22692689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:138280349..138280414hg38UCSC Ensembl
chr8:139292592..139292657hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17438427
Samples
Known GenesFAM135B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5917470
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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