A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15204523



Internal ID21343328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:138313722..138313722hg38UCSC Ensembl
chr8:139325965..139325965hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3926235
Supporting Variants
SamplesHG002
Known GenesFAM135B
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15204523
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer