A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050055



Internal ID19139274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:16010011..16051797hg38UCSC Ensembl
Innerchr12:16162945..16204731hg19UCSC Ensembl
Innerchr12:16054212..16095998hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3841787
hg1941787
hg1841787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1395n100
Supporting Variantsnssv3519336
Samples
Known GenesDERA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050055
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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