A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17477810



Internal ID22535711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23586167..23587344hg38UCSC Ensembl
chr18:21166131..21167308hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381178
hg191178
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5887237
Supporting Variants
Samples
Known GenesNPC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17477810
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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