A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6067528



Internal ID21976761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75502521..75502521hg38UCSC Ensembl
chr5:74798346..74798346hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17541240
Samples
Known GenesCOL4A3BP
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6067528
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