A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17501098



Internal ID22559035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117525352..117529351hg38UCSC Ensembl
chr6:117846515..117850514hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg384000
hg194000
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5844233
Supporting Variants
Samples
Known GenesDCBLD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17501098
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