A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517367



Internal ID15097974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:8853375..9046387hg38UCSC Ensembl
Innerchr2:8993505..9186516hg19UCSC Ensembl
Innerchr2:8910956..9103967hg18UCSC Ensembl
Innerchr2:8944103..9137114hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38193013
hg19193012
hg18193012
hg17193012
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv672553, nssv688027, nssv684131, nssv656894, nssv670784, nssv701848, nssv651825
Samples
Known GenesMBOAT2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517367
Frequency
Sample Size2026
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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