A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054148



Internal ID18796679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46169941..46293101hg38UCSC Ensembl
Innerchr10:47541177..47664337hg19UCSC Ensembl
Innerchr10:47011183..47134343hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38123161
hg19123161
hg18123161
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv833n100
Supporting Variantsnssv3518899, nssv3504997
Samples
Known GenesANTXRL, ANTXRLP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054148
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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