A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15180558



Internal ID21319354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:38880090..38880145hg38UCSC Ensembl
chr4:38881711..38881766hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3929798
Supporting Variants
SamplesHG002
Known GenesFAM114A1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15180558
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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