A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257417



Internal ID22209242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:52488475..52539973hg38UCSC Ensembl
Outerchr13:53062610..53114108hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3813735
hg1913735
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232224
Supporting Variants
SamplesHG00732
Known GenesTPTE2P3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257417
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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