A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270930



Internal ID22225540
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225378
Supporting Variants
SamplesHG00733
Known GenesLMCD1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270930
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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