A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4756809



Internal ID20532669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:57984175..57984175hg38UCSC Ensembl
chr1:58449847..58449847hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38503
hg19503
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16266194
Samples
Known GenesDAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4756809
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