A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15183588



Internal ID21322385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101241792..101244073hg38UCSC Ensembl
chr13:101894143..101896424hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg382282
hg192282
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3946841
Supporting Variants
SamplesHG002
Known GenesNALCN
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15183588
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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