A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971384



Internal ID22746319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36184460..36184460hg38UCSC Ensembl
chr13:36758597..36758597hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382338
Samples
Known GenesCCDC169-SOHLH2, SOHLH2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971384
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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