A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15202321



Internal ID21341127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180797843..180797843hg38UCSC Ensembl
chr5:180224843..180224843hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3928036
Supporting Variants
SamplesHG002
Known GenesMGAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15202321
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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