A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17460366



Internal ID22518252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130835703..130836702hg38UCSC Ensembl
chr12:131320248..131321247hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5853621
Supporting Variants
Samples
Known GenesSTX2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17460366
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