A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17376648



Internal ID22602317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13465823..13466866hg38UCSC Ensembl
chr18:13465822..13466865hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381044
hg191044
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5935650
Supporting Variants
Samples
Known GenesLDLRAD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17376648
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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