A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050758



Internal ID18793289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30958006..30984205hg38UCSC Ensembl
Innerchr12:31110940..31137140hg19UCSC Ensembl
Innerchr12:31002207..31028407hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3826200
hg1926201
hg1826201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1414n100
Supporting Variantsnssv3517275
Samples
Known GenesTSPAN11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050758
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