A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264012



Internal ID22284265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8424447..8425155hg38UCSC Ensembl
Outerchr19:8489331..8490039hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38967
hg19967
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237708
Supporting Variants
SamplesNA19239
Known GenesMARCH2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264012
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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