A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469727



Internal ID15534442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42975296..43160287hg38UCSC Ensembl
Innerchr19:43479448..43664439hg19UCSC Ensembl
Innerchr19:48171288..48356279hg18UCSC Ensembl
Innerchr19:48171288..48356279hg16UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38184992
hg19184992
hg18184992
hg16184992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672492, nssv1672349, nssv1673660, nssv1672789, nssv1676503, nssv1673610, nssv1673360, nssv1675236, nssv1672543, nssv1675593, nssv1673746, nssv1676650, nssv1672859, nssv1676699, nssv1673973
Samples
Known GenesPSG11, PSG2
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)nsv469727
Frequency
Sample Size265
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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