A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026938



Internal ID18769469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:128849806..129015050hg38UCSC Ensembl
Innerchr4:129770961..129936205hg19UCSC Ensembl
Innerchr4:129990411..130155655hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38165245
hg19165245
hg18165245
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5386n100
Supporting Variantsnssv3639433
Samples
Known GenesJADE1, SCLT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1026938
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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