A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14435602



Internal ID22178689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173198862..173198944hg38UCSC Ensembl
chr5:172625865..172625947hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209273
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14435602
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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