A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272090



Internal ID22197897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:183010908..183032590hg38UCSC Ensembl
Outerchr3:182728696..182750378hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38681
hg19681
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221348
Supporting Variants
SamplesHG00732
Known GenesMCCC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272090
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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