A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952964



Internal ID22728261
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 StatusM
Merged Variants
Supporting Variantsnssv17404164
Samples
Known GenesMAP3K7CL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952964
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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