A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478853



Internal ID21136406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36247901..36249600hg38UCSC Ensembl
chr13:36822038..36823737hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18008988
Samples
Known GenesCCDC169, CCDC169-SOHLH2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478853
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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