A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048917



Internal ID18791448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9240686..9283536hg38UCSC Ensembl
Innerchr12:9393282..9436132hg19UCSC Ensembl
Innerchr12:9284549..9327399hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3842851
hg1942851
hg1842851
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3519712
Samples
Known GenesLINC00987
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048917
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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