A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6012721



Internal ID21922064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74580515..74585556hg38UCSC Ensembl
chr7:73994844..73999885hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg385042
hg195042
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17575348
Samples
Known GenesGTF2IRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6012721
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