A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538289



Internal ID15510910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:16834459..16848091hg38UCSC Ensembl
Innerchr5:16834568..16848200hg19UCSC Ensembl
Innerchr5:16887568..16901200hg18UCSC Ensembl
Innerchr5:16887568..16901200hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3813633
hg1913633
hg1813633
hg1713633
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461987
Supporting Variants
SamplesHGDP01321
Known GenesMYO10
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)nssv538289
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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