A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219347



Internal ID22364392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:149280073..149280124hg38UCSC Ensembl
chr7:148977164..148977215hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8820n152
Supporting Variantsnssv14435955
SamplesHG00514
Known GenesZNF783
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219347
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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