A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054753



Internal ID18797284
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 StatusM
Merged Variantsdgv1588n100
Supporting Variantsnssv3526378
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)nsv1054753
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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