A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971687



Internal ID22746622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43879814..43879814hg38UCSC Ensembl
chr13:44453950..44453950hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373715
Samples
Known GenesLACC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971687
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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