A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257737



Internal ID22325189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:102691581..102699087hg38UCSC Ensembl
Outerchr13:103343931..103351437hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg382227
hg192227
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247027
Supporting Variants
SamplesNA19240
Known GenesMETTL21C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257737
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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