A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14321167



Internal ID22315798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75239129..75239129hg38UCSC Ensembl
chr5:74534954..74534954hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564231
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14321167
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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