A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052705



Internal ID18795236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31104761..31242897hg38UCSC Ensembl
Innerchr12:31257695..31395831hg19UCSC Ensembl
Innerchr12:31148962..31287098hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38138137
hg19138137
hg18138137
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1417n100
Supporting Variantsnssv3504739, nssv3515750, nssv3710345, nssv3511020, nssv3517046
Samples
Known GenesDDX11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052705
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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