A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004513



Internal ID18747044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:65102651..65209427hg38UCSC Ensembl
Innerchr1:65568334..65675110hg19UCSC Ensembl
Innerchr1:65340922..65447698hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38106777
hg19106777
hg18106777
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv173n100
Supporting Variantsnssv3469942
Samples
Known GenesAK4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004513
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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