A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17606527



Internal ID21798574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50135106..50135207hg38UCSC Ensembl
chr12:50528889..50528990hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6039997
Supporting Variants
Samples
Known GenesCERS5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17606527
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer