A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256551



Internal ID22200532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113343372..113407996hg38UCSC Ensembl
Outerchr13:113997687..114062311hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3864625
hg1964625
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213540
Supporting Variants
SamplesHG00732
Known GenesGRTP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256551
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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