A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050093



Internal ID18792624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131704837..131753633hg38UCSC Ensembl
Innerchr12:132189382..132238178hg19UCSC Ensembl
Innerchr12:130755335..130804131hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3848797
hg1948797
hg1848797
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1588n100
Supporting Variantsnssv3526379
Samples
Known GenesSFSWAP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050093
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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