A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263236



Internal ID22134144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:296114..621535hg38UCSC Ensembl
Outerchr19:296114..621535hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg385186
hg195186
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238185
Supporting Variants
SamplesHG00513
Known GenesBSG, C2CD4C, CDC34, GZMM, HCN2, MADCAM1, MIER2, ODF3L2, POLRMT, SHC2, THEG, TPGS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263236
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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