A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012251



Internal ID18754784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21385238..21452003hg38UCSC Ensembl
Innerchr1:21711731..21778496hg19UCSC Ensembl
Innerchr1:21584318..21651083hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3866766
hg1966766
hg1866766
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3700856
Samples
Known GenesNBPF3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012251
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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