A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594556



Internal ID16381965
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 StatusM
Merged Variantsdgv9110n54
Supporting Variantsnssv992553, nssv992536, nssv992542, nssv992531, nssv1002152, nssv1002149, nssv992532, nssv992529, nssv1002150, nssv992539, nssv1002147, nssv992537, nssv992525, nssv992554, nssv992547, nssv992545, nssv992526, nssv992552, nssv992535, nssv992548, nssv992527, nssv992550, nssv992555, nssv992538, nssv992533, nssv992541, nssv992523, nssv992549, nssv992530, nssv992543, nssv1002148, nssv992551, nssv1002153, nssv992556, nssv992546, nssv992524, nssv992544, nssv992528, nssv992534, nssv992540, nssv1002151
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594556
Frequency
Sample Size17421
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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