A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262576



Internal ID22220047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8419596..8424059hg38UCSC Ensembl
Outerchr19:8484480..8488943hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381516
hg191516
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246676
Supporting Variants
SamplesHG00733
Known GenesMARCH2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262576
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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