A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17453811



Internal ID22511686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121837570..121840121hg38UCSC Ensembl
chr12:122275476..122278027hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382552
hg192552
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5849651
Supporting Variants
Samples
Known GenesHPD
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17453811
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