A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4014524



Internal ID22076155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:137287522..137308201hg38UCSC Ensembl
Outerchr2:137279780..137316225hg38UCSC Ensembl
Innerchr2:138045092..138065771hg19UCSC Ensembl
Outerchr2:138037350..138073795hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3836446
hg1936446
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155874
Supporting Variants
Samples
Known GenesTHSD7B
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4014524
Frequency
Sample Size131
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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