A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558559



Internal ID22427362
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14285141, nssv14285144, nssv14285142, nssv14285137, nssv14285139, nssv14285140, nssv14285138, nssv14285145, nssv14285143
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesALPK2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558559
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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