A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051681



Internal ID19140900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:117254956..117282380hg38UCSC Ensembl
Innerchr12:117692761..117720185hg19UCSC Ensembl
Innerchr12:116177144..116204568hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3827425
hg1927425
hg1827425
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526072
Samples
Known GenesNOS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051681
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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