A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14411901



Internal ID22314762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177673403..177682164hg38UCSC Ensembl
chr5:177100404..177109165hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388762
hg198762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192679
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14411901
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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