A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6043555



Internal ID21952849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6160472..6160472hg38UCSC Ensembl
chr1:6220532..6220532hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17518855
Samples
Known GenesCHD5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6043555
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