A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1006251



Internal ID16300207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:128853220..129003822hg38UCSC Ensembl
Innerchr4:129774375..129924977hg19UCSC Ensembl
Innerchr4:129993825..130144427hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38150603
hg19150603
hg18150603
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv595397
Supporting Variants
Samples
Known GenesJADE1, SCLT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1006251
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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