A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17534716



Internal ID21859071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85362448..85362448hg38UCSC Ensembl
chr2:85589571..85589571hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6049919
Supporting Variants
Samples
Known GenesELMOD3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17534716
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