A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530646



Internal ID22400019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1113057..1113057hg38UCSC Ensembl
chr7:1152693..1152693hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381189
hg191189
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14401300
SamplesNA19240
Known GenesC7orf50
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3530646
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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