A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17103313



Internal ID21442964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13929745..13929834hg38UCSC Ensembl
chr19:14040558..14040647hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5602593
Supporting Variants
SamplesHG00732
Known GenesCC2D1A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17103313
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