A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940173



Internal ID22715578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58569776..58569976hg38UCSC Ensembl
chr18:56237008..56237208hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373045
Samples
Known GenesALPK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940173
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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