A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv684298



Internal ID15420950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131003496..131380721hg38UCSC Ensembl
Innerchr12:131488041..131865266hg19UCSC Ensembl
Innerchr12:130053994..130431219hg18UCSC Ensembl
Innerchr12:130012921..130390146hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38377226
hg19377226
hg18377226
hg17377226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517271
Supporting Variants
Samples
Known GenesGPR133, LOC116437, LOC338797
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv684298
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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