A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019757



Internal ID19108975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143834417..144022115hg38UCSC Ensembl
Innerchr4:144755570..144943268hg19UCSC Ensembl
Innerchr4:144975020..145162718hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38187699
hg19187699
hg18187699
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5416n100
Supporting Variantsnssv3635049
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)nsv1019757
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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