A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14313950



Internal ID22226026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48702488..48702773hg38UCSC Ensembl
chr4:48704505..48704790hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191796
Supporting Variants
SamplesHG00733
Known GenesFRYL
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14313950
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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