A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469701



Internal ID15187730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:38394019..38545635hg38UCSC Ensembl
Innerchr17:36550272..36701870hg19UCSC Ensembl
Innerchr17:33803798..33955396hg18UCSC Ensembl
Innerchr17:36925235..37076833hg16UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38151617
hg19151599
hg18151599
hg16151599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673521, nssv1673356, nssv1672618, nssv1673677, nssv1676546, nssv1672655
Samples
Known GenesARHGAP23, SOCS7, SRCIN1
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)nsv469701
Frequency
Sample Size265
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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