A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200785



Internal ID22350187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99212701..99223950hg38UCSC Ensembl
chr7:98810324..98821573hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3811250
hg1911250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8666n152
Supporting Variantsnssv14438310
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)nsv3200785
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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