A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177494



Internal ID20744534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58585304..58595664hg38UCSC Ensembl
chr18:56252536..56262896hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg3810361
hg1910361
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6534755
Supporting Variants
Samples
Known GenesALPK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177494
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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