A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016629



Internal ID18759164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143889299..144124407hg38UCSC Ensembl
Innerchr4:144810452..145045560hg19UCSC Ensembl
Innerchr4:145029902..145265010hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38235109
hg19235109
hg18235109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5420n100
Supporting Variantsnssv3635068, nssv3635069, nssv3635066, nssv3635067
Samples
Known GenesGYPA, GYPB, GYPE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016629
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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