A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047614



Internal ID18790145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:148770..207194hg38UCSC Ensembl
Innerchr12:257936..316360hg19UCSC Ensembl
Innerchr12:128197..186621hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3858425
hg1958425
hg1858425
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1331n100
Supporting Variantsnssv3518806
Samples
Known GenesIQSEC3, LOC574538, SLC6A12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047614
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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