A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203340



Internal ID22352370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:35039322..35049598hg38UCSC Ensembl
chr7:35078934..35089210hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3810277
hg1910277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14435852
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)nsv3203340
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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