A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469747



Internal ID15534462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8650621..8802639hg38UCSC Ensembl
Innerchr19:8760093..8913315hg19UCSC Ensembl
Innerchr19:8621093..8774315hg18UCSC Ensembl
Innerchr19:8621093..8774315hg16UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38152019
hg19153223
hg18153223
hg16153223
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673226, nssv1674500, nssv1676594, nssv1675994, nssv1674382, nssv1673558, nssv1675432, nssv1674186, nssv1672483, nssv1672181, nssv1672778, nssv1672807, nssv1672428, nssv1676280, nssv1676364, nssv1674510, nssv1674422, nssv1673645, nssv1672073, nssv1676682, nssv1675406, nssv1672334, nssv1672950, nssv1673895, nssv1672913, nssv1674644, nssv1675496, nssv1672728, nssv1674582, nssv1674412, nssv1674931, nssv1675964, nssv1672594, nssv1673673, nssv1675489, nssv1675728, nssv1675555, nssv1674568, nssv1672925, nssv1675378, nssv1673848, nssv1674937, nssv1673813, nssv1672813, nssv1674547, nssv1673462, nssv1675530, nssv1673694, nssv1674374, nssv1674101, nssv1676508, nssv1673872, nssv1676110
Samples
Known GenesACTL9, OR2Z1
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)nsv469747
Frequency
Sample Size265
Observed Gain52
Observed Loss1
Observed Complex0
Frequencyn/a


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