A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17371816



Internal ID22597485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5433518..5434527hg38UCSC Ensembl
chr18:5433517..5434526hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381010
hg191010
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5928791
Supporting Variants
Samples
Known GenesEPB41L3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17371816
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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