A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17127150



Internal ID21507088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196273552..196273621hg38UCSC Ensembl
chr3:196000423..196000492hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5572695
Supporting Variants
SamplesNA19983
Known GenesPCYT1A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17127150
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