A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041807



Internal ID18784338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:97599906..97805182hg38UCSC Ensembl
Innerchr12:97993684..98198960hg19UCSC Ensembl
Innerchr12:96517815..96723091hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38205277
hg19205277
hg18205277
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1547n100
Supporting Variantsnssv3524834
Samples
Known GenesLOC643711
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041807
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