A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14285142



Internal ID22231163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58550349..58550547hg38UCSC Ensembl
chr18:56217581..56217779hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeOTHER sequence alteration
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558559
Supporting Variants
SamplesHG00733
Known GenesALPK2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14285142
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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