A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218731



Internal ID22363984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3767857..3816365hg38UCSC Ensembl
Outerchr4:3769584..3818092hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381210
hg191210
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272897, nssv14272898, nssv14272896, nssv14272899, nssv14272895
SamplesNA19238, HG00731, HG00732, NA19240, HG00733
Known GenesADRA2C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218731
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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