A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14409178



Internal ID22292914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:42251315..42262317hg38UCSC Ensembl
chr4:42253332..42264334hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3811003
hg1911003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202236
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)nssv14409178
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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