A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262975



Internal ID22262086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:831702..883322hg38UCSC Ensembl
Outerchr19:831702..883322hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg387036
hg197036
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231493
Supporting Variants
SamplesNA19238
Known GenesAZU1, CFD, ELANE, MED16, PRTN3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262975
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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