A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031486



Internal ID19120708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143979424..144062086hg38UCSC Ensembl
Innerchr4:144900577..144983239hg19UCSC Ensembl
Innerchr4:145120027..145202689hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3882663
hg1982663
hg1882663
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5426n100
Supporting Variantsnssv3744256
Samples
Known GenesGYPB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031486
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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