A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17453704



Internal ID22511578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:58708674..58728711hg38UCSC Ensembl
chr10:60468434..60488471hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3820038
hg1920038
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5851276
Supporting Variants
Samples
Known GenesBICC1, FAM133CP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17453704
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