A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15176342



Internal ID21315138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57678677..57679000hg38UCSC Ensembl
chr18:55345909..55346232hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3929569
Supporting Variants
SamplesHG002
Known GenesATP8B1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15176342
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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