A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016103



Internal ID19105321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143857751..144080924hg38UCSC Ensembl
Innerchr4:144778904..145002077hg19UCSC Ensembl
Innerchr4:144998354..145221527hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38223174
hg19223174
hg18223174
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5417n100
Supporting Variantsnssv3744250
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)nsv1016103
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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