A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219876



Internal ID22364753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:69909372..69960748hg38UCSC Ensembl
Outerchr1:70375055..70426431hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg385328
hg195328
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273755
SamplesHG00513
Known GenesLRRC7, PIN1P1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219876
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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