A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6062813



Internal ID21972046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42576084..42576084hg38UCSC Ensembl
chr5:42576186..42576186hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17547394
Samples
Known GenesGHR
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6062813
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