A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv684131



Internal ID15074097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:8861362..9046387hg38UCSC Ensembl
Innerchr2:9001492..9186516hg19UCSC Ensembl
Innerchr2:8918943..9103967hg18UCSC Ensembl
Innerchr2:8952090..9137114hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38185026
hg19185025
hg18185025
hg17185025
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517367
Supporting Variants
Samples
Known GenesMBOAT2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv684131
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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