A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17449134



Internal ID22507004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:138206160..138206752hg38UCSC Ensembl
chr8:139218403..139218995hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38593
hg19593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5916243
Supporting Variants
Samples
Known GenesFAM135B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17449134
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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