A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3293305



Internal ID22388121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56149008..56149081hg38UCSC Ensembl
chr19:56660377..56660450hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14406251, nssv14432452, nssv14453537
SamplesNA19240, HG00733, HG00514
Known GenesZNF444
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3293305
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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