A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3526378



Internal ID18477973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131696755..131747222hg38UCSC Ensembl
Innerchr12:132181300..132231767hg19UCSC Ensembl
Innerchr12:130747253..130797720hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3850468
hg1950468
hg1850468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1054753
Supporting Variants
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)nssv3526378
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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