A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033612



Internal ID18776145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144051024..144111731hg38UCSC Ensembl
Innerchr4:144972177..145032884hg19UCSC Ensembl
Innerchr4:145191627..145252334hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3860708
hg1960708
hg1860708
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5433n100
Supporting Variantsnssv3636057, nssv3744260, nssv3636058
Samples
Known GenesGYPA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033612
Frequency
Sample Size29084
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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