A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4744220



Internal ID20520217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56789047..56789269hg38UCSC Ensembl
chr12:57182831..57183053hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16286060
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4744220
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