A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17396079



Internal ID22453949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235784613..235785643hg38UCSC Ensembl
chr2:236693257..236694287hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg381031
hg191031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5897270
Supporting Variants
Samples
Known GenesAGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17396079
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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