A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048949



Internal ID18791480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59580258..59647696hg38UCSC Ensembl
Innerchr12:59974039..60041477hg19UCSC Ensembl
Innerchr12:58260306..58327744hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3867439
hg1967439
hg1867439
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523631
Samples
Known GenesSLC16A7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048949
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