A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1672439



Internal ID15183261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:663703..837834hg38UCSC Ensembl
Innerchr17:566943..741074hg19UCSC Ensembl
Innerchr17:513693..687824hg18UCSC Ensembl
Innerchr17:551693..725824hg16UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38174132
hg19174132
hg18174132
hg16174132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469891
Supporting Variants
Samples
Known GenesDBIL5P, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1, VPS53
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)nssv1672439
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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