A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15204979



Internal ID21343781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123667929..123667929hg38UCSC Ensembl
chr8:124680169..124680169hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3953124
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15204979
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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