A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17369930



Internal ID22595599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54891266..54891424hg38UCSC Ensembl
chr18:52558497..52558655hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5941895
Supporting Variants
Samples
Known GenesRAB27B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17369930
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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