A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5651072



Internal ID21599377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101778921..101778921hg38UCSC Ensembl
chr12:102172699..102172699hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381510
hg191510
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077052
SamplesHG03732
Known GenesGNPTAB
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5651072
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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