A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034728



Internal ID18777261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144003753..144111731hg38UCSC Ensembl
Innerchr4:144924906..145032884hg19UCSC Ensembl
Innerchr4:145144356..145252334hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38107979
hg19107979
hg18107979
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5430n100
Supporting Variantsnssv3636038
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)nsv1034728
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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