A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15188464



Internal ID21327299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:139583495..139583495hg38UCSC Ensembl
chr3:139302337..139302337hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3933214
Supporting Variants
SamplesHG002
Known GenesNMNAT3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15188464
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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