A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv992547



Internal ID16286503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68575796..68622792hg38UCSC Ensembl
Innerchr4:69441514..69488510hg19UCSC Ensembl
Innerchr4:69124109..69171105hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3846997
hg1946997
hg1846997
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv594556
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv992547
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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