A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052141



Internal ID19141360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:93944507..94037638hg38UCSC Ensembl
Innerchr13:94596760..94689892hg19UCSC Ensembl
Innerchr13:93394761..93487893hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3893132
hg1993133
hg1893133
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3525495
Samples
Known GenesGPC6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052141
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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