A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15204124



Internal ID21342924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109337068..109337068hg38UCSC Ensembl
chr8:110349297..110349297hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3933044
Supporting Variants
SamplesHG002
Known GenesENY2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15204124
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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