A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6027084



Internal ID21936427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124951037..124951735hg38UCSC Ensembl
chr12:125435583..125436281hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38699
hg19699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17613636
Samples
Known GenesDHX37
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6027084
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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