A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378085



Internal ID22435955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21592691..21593003hg38UCSC Ensembl
chr18:19172652..19172964hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5933607
Supporting Variants
Samples
Known GenesESCO1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378085
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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