A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534848



Internal ID15509633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:22409941..22568765hg38UCSC Ensembl
Innerchr17:21909270..22068092hg19UCSC Ensembl
Innerchr17:21833397..21992219hg18UCSC Ensembl
Innerchr17:21833397..21992219hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38158825
hg19158823
hg18158823
hg17158823
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457716
Supporting Variants
SamplesHGDP01053
Known GenesFLJ36000, 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)nssv534848
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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