A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4749961



Internal ID20525996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57349637..57349792hg38UCSC Ensembl
chr12:57743420..57743575hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16276782
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4749961
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