A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944241



Internal ID22719703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36217729..36221511hg38UCSC Ensembl
chr13:36791866..36795648hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg383783
hg193783
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380374
Samples
Known GenesCCDC169-SOHLH2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944241
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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