A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021155



Internal ID18763689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143999095..144111731hg38UCSC Ensembl
Innerchr4:144920248..145032884hg19UCSC Ensembl
Innerchr4:145139698..145252334hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38112637
hg19112637
hg18112637
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5430n100
Supporting Variantsnssv3635279, nssv3635280
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)nsv1021155
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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