A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042313



Internal ID18784844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52042..233978hg38UCSC Ensembl
Innerchr12:161208..343144hg19UCSC Ensembl
Innerchr12:31469..213405hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38181937
hg19181937
hg18181937
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1330n100
Supporting Variantsnssv3506582
Samples
Known GenesIQSEC3, LOC574538, SLC6A12, SLC6A13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042313
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