A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17485042



Internal ID22542953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130915240..130927532hg38UCSC Ensembl
chr3:130634084..130646376hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3812293
hg1912293
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5834905
Supporting Variants
Samples
Known GenesATP2C1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17485042
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