A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469697



Internal ID15534412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46139380..46300887hg38UCSC Ensembl
Innerchr17:44216746..44378253hg19UCSC Ensembl
Innerchr17:41572523..41734030hg18UCSC Ensembl
Innerchr17:44692162..44853669hg16UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38161508
hg19161508
hg18161508
hg16161508
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672771, nssv1673554, nssv1673811, nssv1672162, nssv1675522, nssv1674709, nssv1672899, nssv1676558, nssv1674983, nssv1676643, nssv1675060, nssv1672305, nssv1676512, nssv1673916, nssv1673971, nssv1674267, nssv1676690, nssv1675215, nssv1673345, nssv1673280, nssv1672463, nssv1675214, nssv1674098
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A
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)nsv469697
Frequency
Sample Size265
Observed Gain5
Observed Loss18
Observed Complex0
Frequencyn/a


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