A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469795



Internal ID15187824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16596745..16683598hg38UCSC Ensembl
Innerchr1:16923240..17010093hg19UCSC Ensembl
Innerchr1:16795827..16882680hg18UCSC Ensembl
Innerchr1:16304321..16391174hg16UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3886854
hg1986854
hg1886854
hg1686854
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673499, nssv1672511, nssv1673154, nssv1672635, nssv1673571, nssv1676452, nssv1675030, nssv1673830, nssv1672656, nssv1672126, nssv1673706, nssv1673449, nssv1674737, nssv1675154, nssv1672293, nssv1673678, nssv1674269, nssv1676098, nssv1673599, nssv1676473, nssv1675644, nssv1675110, nssv1674398, nssv1674784, nssv1672226, nssv1673729, nssv1676595, nssv1675645, nssv1674196, nssv1672065, nssv1675165, nssv1675604, nssv1675932, nssv1672101, nssv1675471, nssv1675328, nssv1676008, nssv1675262, nssv1673422, nssv1674352, nssv1675019, nssv1674026, nssv1673029, nssv1676350, nssv1674594, nssv1675283
Samples
Known GenesCROCCP2, LOC729574, MIR3675, MST1P2, NBPF1
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)nsv469795
Frequency
Sample Size265
Observed Gain45
Observed Loss1
Observed Complex0
Frequencyn/a


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