A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17532120



Internal ID21856476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135550265..135550265hg38UCSC Ensembl
chr2:136307835..136307835hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6045328
Supporting Variants
Samples
Known GenesR3HDM1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17532120
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