A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469875



Internal ID15187904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:64741770..64944984hg38UCSC Ensembl
Innerchr17:62737888..62941102hg19UCSC Ensembl
Innerchr17:60168350..60371564hg18UCSC Ensembl
Innerchr17:63287989..63491203hg16UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38203215
hg19203215
hg18203215
hg16203215
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1676428, nssv1676654, nssv1676031, nssv1676551, nssv1674433, nssv1673764, nssv1674994, nssv1673990, nssv1676574, nssv1676009, nssv1675613, nssv1674146, nssv1672205, nssv1674773, nssv1672234, nssv1672845, nssv1676371, nssv1672296, nssv1673661, nssv1673605, nssv1675875, nssv1673024, nssv1675786, nssv1673281, nssv1672353, nssv1672367, nssv1672539, nssv1673780, nssv1676253, nssv1675004, nssv1675457, nssv1673754, nssv1672145, nssv1674607, nssv1675482, nssv1674563, nssv1676562, nssv1675710, nssv1674178
Samples
Known GenesLOC146880, LRRC37A3, MIR4315-1, MIR4315-2, MIR6080, PLEKHM1P
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)nsv469875
Frequency
Sample Size265
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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