A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17394120



Internal ID22451990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234985860..234986100hg38UCSC Ensembl
chr2:235894504..235894744hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893443
Supporting Variants
Samples
Known GenesSH3BP4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17394120
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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