A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17733282



Internal ID156948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57216639..57216639hg38UCSC Ensembl
chr20:55791695..55791695hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5538544
Supporting Variants
Samples
Known GenesBMP7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17733282
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001873


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