A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278591



Internal ID22259205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142720119..142783415hg38UCSC Ensembl
Outerchr7:142427943..142491225hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg389989
hg199989
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220567
Supporting Variants
SamplesNA19238
Known GenesPRSS1, PRSS2, PRSS3P2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278591
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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