A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17460543



Internal ID22518426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28268140..28270166hg38UCSC Ensembl
chr12:28421073..28423099hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg382027
hg192027
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5852231
Supporting Variants
Samples
Known GenesCCDC91
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17460543
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