A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17429358



Internal ID22487228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112415093..112416710hg38UCSC Ensembl
chr5:111750790..111752407hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg381618
hg191618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893297
Supporting Variants
Samples
Known GenesEPB41L4A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17429358
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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