A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15204671



Internal ID21343473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:126074684..126074684hg38UCSC Ensembl
chr8:127086928..127086928hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3947381
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15204671
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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