A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830980



Internal ID22605915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130145851..130158571hg38UCSC Ensembl
chr2:130903424..130916144hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3812721
hg1912721
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17486402, nssv17486403
Samples
Known GenesSMPD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830980
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