A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702103



Internal ID15438755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:136927717..137010442hg38UCSC Ensembl
Innerchr2:137685287..137768012hg19UCSC Ensembl
Innerchr2:137401757..137484482hg18UCSC Ensembl
Innerchr2:137519019..137601744hg17UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3882726
hg1982726
hg1882726
hg1782726
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525899
Supporting Variants
Samples
Known GenesTHSD7B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702103
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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