A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048942



Internal ID19138161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116927701..116962783hg38UCSC Ensembl
Innerchr12:117365506..117400588hg19UCSC Ensembl
Innerchr12:115849889..115884971hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3835083
hg1935083
hg1835083
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1562n100
Supporting Variantsnssv3526071
Samples
Known GenesFBXW8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048942
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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