A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17466447



Internal ID22524338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11547093..11559113hg38UCSC Ensembl
chr12:11700027..11712047hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3812021
hg1912021
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5851252
Supporting Variants
Samples
Known GenesLOC338817
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17466447
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