A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032377



Internal ID18774911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143882205..144091396hg38UCSC Ensembl
Innerchr4:144803358..145012549hg19UCSC Ensembl
Innerchr4:145022808..145231999hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38209192
hg19209192
hg18209192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5420n100
Supporting Variantsnssv3744254, nssv3635063
Samples
Known GenesGYPB, GYPE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032377
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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