A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516200



Internal ID15096807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:139471320..139481493hg38UCSC Ensembl
Innerchr5:138850905..138861078hg19UCSC Ensembl
Innerchr5:138831089..138841262hg18UCSC Ensembl
Innerchr5:138831089..138841262hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3810174
hg1910174
hg1810174
hg1710174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv661522, nssv666767
Samples
Known GenesTMEM173
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516200
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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