A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17420942



Internal ID22478812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11123713..11130813hg38UCSC Ensembl
chr5:11123825..11130925hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg387101
hg197101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5891487
Supporting Variants
Samples
Known GenesCTNND2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17420942
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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