A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469718



Internal ID15187747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:67952598..68109856hg38UCSC Ensembl
Innerchr4:68818316..68975574hg19UCSC Ensembl
Innerchr4:68500911..68658169hg18UCSC Ensembl
Innerchr4:68821696..68978954hg16UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38157259
hg19157259
hg18157259
hg16157259
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673807, nssv1673573, nssv1673615, nssv1673757, nssv1672828, nssv1676223
Samples
Known GenesLOC550113, SYT14L, TMPRSS11A, TMPRSS11F, TMPRSS11GP
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)nsv469718
Frequency
Sample Size265
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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