A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14318829



Internal ID22191310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:180567348..180567403hg38UCSC Ensembl
chr4:181488501..181488556hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209597
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14318829
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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