A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028662



Internal ID18771193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144021651..144111731hg38UCSC Ensembl
Innerchr4:144942804..145032884hg19UCSC Ensembl
Innerchr4:145162254..145252334hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3890081
hg1990081
hg1890081
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5431n100
Supporting Variantsnssv3636045, nssv3636046, nssv3636044, nssv3744259
Samples
Known GenesGYPA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028662
Frequency
Sample Size29084
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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