A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469715



Internal ID15187744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49572544..49730286hg38UCSC Ensembl
Innerchr19:50075801..50233543hg19UCSC Ensembl
Innerchr19:54767613..54925355hg18UCSC Ensembl
Innerchr19:54767613..54925355hg16UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38157743
hg19157743
hg18157743
hg16157743
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675487, nssv1672554, nssv1675509, nssv1674408, nssv1673393, nssv1675937, nssv1675665, nssv1675217, nssv1672117, nssv1675527, nssv1676419, nssv1674893, nssv1672174, nssv1675978, nssv1674309, nssv1673868, nssv1676402, nssv1675766, nssv1674750, nssv1673379, nssv1675388, nssv1676306, nssv1672940, nssv1672155
Samples
Known GenesADM5, BCL2L12, CPT1C, IRF3, MIR5088, NOSIP, PRMT1, PRR12, PRRG2, RRAS, SCAF1
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nsv469715
Frequency
Sample Size265
Observed Gain1
Observed Loss23
Observed Complex0
Frequencyn/a


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