A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000876



Internal ID19090093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12746824..12785708hg38UCSC Ensembl
Innerchr1:12806772..12845851hg19UCSC Ensembl
Innerchr1:12729359..12768438hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3838885
hg1939080
hg1839080
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3464831
Samples
Known GenesC1orf158, PRAMEF12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000876
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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