A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971201



Internal ID22746136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58564123..58564123hg38UCSC Ensembl
chr18:56231355..56231355hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377307
Samples
Known GenesALPK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971201
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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