A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010451



Internal ID19099668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121441013..121741169hg38UCSC Ensembl
Innerchr1:121182871..121482967hg19UCSC Ensembl
Innerchr1:120884394..121184490hg18UCSC Ensembl
Cytoband1p11.1
Allele length
AssemblyAllele length
hg38300157
hg19300097
hg18300097
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv309n100
Supporting Variantsnssv3490154
Samples
Known GenesEMBP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010451
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer