A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17402071



Internal ID22459941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29148708..29149413hg38UCSC Ensembl
chr22:29544696..29545401hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38706
hg19706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5964172
Supporting Variants
Samples
Known GenesKREMEN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17402071
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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