A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15202258



Internal ID21341060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127436145..127436145hg38UCSC Ensembl
chr5:126771837..126771837hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg386141
hg196141
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3935920
Supporting Variants
SamplesHG002
Known GenesMEGF10
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15202258
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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