A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608469



Internal ID16049192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:137888441..137888916hg38UCSC Ensembl
Innerchr7:137573187..137573662hg19UCSC Ensembl
Innerchr7:137223727..137224202hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38476
hg19476
hg18476
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11621n54
Supporting Variantsnssv1094807, nssv1094806, nssv1094805, nssv1094803, nssv1094808, nssv1094801, nssv1094804, nssv1094802
Samples
Known GenesCREB3L2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608469
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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