A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17404164



Internal ID22462034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29111657..29113748hg38UCSC Ensembl
chr21:30483978..30486069hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg382092
hg192092
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5952964
Supporting Variants
Samples
Known GenesMAP3K7CL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17404164
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