A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17087742



Internal ID21459515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6520389..6520454hg38UCSC Ensembl
chr12:6629555..6629620hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5591124
Supporting Variants
SamplesHG02818
Known GenesNCAPD2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17087742
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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