A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4757340



Internal ID20533200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44390906..44390906hg38UCSC Ensembl
chr6:44358643..44358643hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16274721
Samples
Known GenesCDC5L
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4757340
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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