A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16283202



Internal ID20492420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30558646..30558723hg38UCSC Ensembl
chr12:30711579..30711656hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4735431
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16283202
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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