A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258295



Internal ID22192226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112961615..112982235hg38UCSC Ensembl
Outerchr13:113615929..113636549hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381238
hg191238
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243388
Supporting Variants
SamplesHG00731
Known GenesMCF2L, MCF2L-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258295
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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