A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012267



Internal ID18754800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109168205..109279887hg38UCSC Ensembl
Innerchr1:109710827..109822509hg19UCSC Ensembl
Innerchr1:109512350..109624032hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38111683
hg19111683
hg18111683
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3492856
Samples
Known GenesCELSR2, KIAA1324, PSRC1, SARS
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012267
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