A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048128



Internal ID18790659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30947003..30983321hg38UCSC Ensembl
Innerchr12:31099937..31136256hg19UCSC Ensembl
Innerchr12:30991204..31027523hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3836319
hg1936320
hg1836320
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1413n100
Supporting Variantsnssv3510592
Samples
Known GenesTSPAN11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048128
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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