A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4740804



Internal ID20516781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27764948..27765081hg38UCSC Ensembl
chr12:27917881..27918014hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16272858
Samples
Known GenesMANSC4
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4740804
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