A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4751597



Internal ID20527457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:44309165..44309165hg38UCSC Ensembl
chr11:44330715..44330715hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16293761
Samples
Known GenesALX4
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4751597
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