A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16903396



Internal ID3074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56166549..56166555hg38UCSC Ensembl
chr1:56632221..56632227hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403139
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16903396
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005308


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