A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512947



Internal ID289487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37584535..37584605hg38UCSC Ensembl
chr13:38158672..38158742hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686956
Samples
Known GenesPOSTN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512947
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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