A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17509780



Internal ID22567730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70568612..70581493hg38UCSC Ensembl
chr8:71480847..71493728hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3812882
hg1912882
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5849211
Supporting Variants
Samples
Known GenesTRAM1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17509780
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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