A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012846



Internal ID18755378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143754786..144572337hg38UCSC Ensembl
Innerchr1:149249435..149521828hg19UCSC Ensembl
Innerchr1:147516059..147788452hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38817552
hg19272394
hg18272394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv397n100
Supporting Variantsnssv3492347, nssv3705029, nssv3705030, nssv3499699, nssv3494786, nssv3497587
Samples
Known GenesFCGR1C, LOC388692
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012846
Frequency
Sample Size29084
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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