A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009846



Internal ID18752377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235370190..235546219hg38UCSC Ensembl
Innerchr1:235533505..235709519hg19UCSC Ensembl
Innerchr1:233600128..233776142hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38176030
hg19176015
hg18176015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv586n100
Supporting Variantsnssv3489534
Samples
Known GenesB3GALNT2, TBCE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009846
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