A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225378



Internal ID22368524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:8398777..8414398hg38UCSC Ensembl
Outerchr3:8440463..8456084hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg381892
hg191892
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270932, nssv14270931, nssv14270933, nssv14270930, nssv14270929, nssv14270928
SamplesNA19238, NA19239, HG00732, NA19240, HG00733, HG00514
Known GenesLMCD1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225378
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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