A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030393



Internal ID18772924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144002985..144111731hg38UCSC Ensembl
Innerchr4:144924138..145032884hg19UCSC Ensembl
Innerchr4:145143588..145252334hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38108747
hg19108747
hg18108747
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5431n100
Supporting Variantsnssv3744257, nssv3636032, nssv3636033, nssv3636031, nssv3744258, nssv3636034
Samples
Known GenesGYPA, GYPB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030393
Frequency
Sample Size29084
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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