A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227315



Internal ID22369848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:38330233..38373352hg38UCSC Ensembl
Outerchr7:38369834..38412953hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg382242
hg192242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278509, nssv14278510
SamplesNA19238, NA19240
Known GenesTRG-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227315
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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