A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1675868



Internal ID15186690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21815572..22020010hg38UCSC Ensembl
Innerchr1:22142065..22346503hg19UCSC Ensembl
Innerchr1:22014652..22219090hg18UCSC Ensembl
Innerchr1:21611540..21815978hg16UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38204439
hg19204439
hg18204439
hg16204439
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469549
Supporting Variants
Samples
Known GenesCELA3A, CELA3B, HSPG2, LDLRAD2
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)nssv1675868
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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