A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457712



Internal ID15517777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:22177812..22743028hg38UCSC Ensembl
Innerchr17:21704418..22242355hg19UCSC Ensembl
Innerchr17:21628545..22166482hg18UCSC Ensembl
Innerchr17:21628545..22166482hg17UCSC Ensembl
Cytoband17p11.1
Allele length
AssemblyAllele length
hg38565217
hg19537938
hg18537938
hg17537938
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv364n27
Supporting Variantsnssv534844
SamplesHGDP00290
Known GenesFAM27L, FLJ36000, MTRNR2L1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv457712
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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