A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030148



Internal ID18772679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143889299..144129458hg38UCSC Ensembl
Innerchr4:144810452..145050611hg19UCSC Ensembl
Innerchr4:145029902..145270061hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38240160
hg19240160
hg18240160
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5421n100
Supporting Variantsnssv3635070
Samples
Known GenesGYPA, GYPB, GYPE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030148
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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