A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15193638



Internal ID21332526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36810878..36810878hg38UCSC Ensembl
chr14:37280083..37280083hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3948741
Supporting Variants
SamplesHG002
Known GenesSLC25A21
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15193638
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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