A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012538



Internal ID18755071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103556018..103635404hg38UCSC Ensembl
Innerchr1:104098640..104178026hg19UCSC Ensembl
Innerchr1:103900163..103979549hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3879387
hg1979387
hg1879387
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv216n100
Supporting Variantsnssv3699627, nssv3480407, nssv3463812, nssv3467762, nssv3472977, nssv3468508, nssv3481296, nssv3479738, nssv3465792, nssv3699626, nssv3476288, nssv3474254, nssv3471772, nssv3481983, nssv3475687, nssv3475155, nssv3699628, nssv3471336, nssv3469929
Samples
Known GenesACTG1P4, AMY2A, AMY2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012538
Frequency
Sample Size29084
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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