A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469648



Internal ID15187677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8698104..8853949hg38UCSC Ensembl
Innerchr19:8808454..8964625hg19UCSC Ensembl
Innerchr19:8669454..8825625hg18UCSC Ensembl
Innerchr19:8669454..8825625hg16UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38155846
hg19156172
hg18156172
hg16156172
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672598, nssv1674892, nssv1673197, nssv1676082, nssv1674939, nssv1673140, nssv1672662, nssv1675521, nssv1675250, nssv1672253, nssv1674698, nssv1674618, nssv1675476, nssv1673086, nssv1674518, nssv1672806, nssv1674232, nssv1675686, nssv1674693, nssv1673542, nssv1672920, nssv1674377, nssv1675198, nssv1672432, nssv1672355, nssv1673979, nssv1673535, nssv1674293, nssv1674245, nssv1674812, nssv1676117, nssv1672803, nssv1676319, nssv1676228, nssv1672585, nssv1675827, nssv1676590, nssv1674428, nssv1674126, nssv1672797, nssv1675920, nssv1675371, nssv1673265, nssv1673444, nssv1674075, nssv1672902, nssv1674419, nssv1673708, nssv1676146, nssv1675717, nssv1672082, nssv1673672, nssv1675652, nssv1673553, nssv1673923, nssv1672298, nssv1673043, nssv1674749, nssv1674715, nssv1675814, nssv1674241, nssv1672259, nssv1675947, nssv1676456, nssv1672786, nssv1673698, nssv1673716, nssv1676463, nssv1672848, nssv1674930, nssv1673704, nssv1675103, nssv1675512, nssv1675627, nssv1674139, nssv1674692, nssv1675558, nssv1672627, nssv1674136, nssv1676018, nssv1674553, nssv1674845, nssv1673953, nssv1676137, nssv1672504, nssv1674307, nssv1675953, nssv1673541, nssv1673882, nssv1675091, nssv1674233, nssv1674459, nssv1674085, nssv1675066, nssv1672148
Samples
Known GenesACTL9, MBD3L1, MUC16, OR2Z1, ZNF558
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)nsv469648
Frequency
Sample Size265
Observed Gain79
Observed Loss16
Observed Complex0
Frequencyn/a


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