A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15182720



Internal ID21321516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45377942..45378020hg38UCSC Ensembl
chr13:45952077..45952155hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3934942
Supporting Variants
SamplesHG002
Known GenesTPT1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15182720
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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