A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896711



Internal ID171952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217066395..217066395hg38UCSC Ensembl
chr1:217239737..217239737hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548715
Supporting Variants
Samples
Known GenesESRRG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896711
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.020494


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