A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538659



Internal ID15163574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:168761153..168770796hg38UCSC Ensembl
Innerchr5:168188158..168197801hg19UCSC Ensembl
Innerchr5:168120736..168130379hg18UCSC Ensembl
Innerchr5:168120736..168130379hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg389644
hg199644
hg189644
hg179644
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462513
Supporting Variants
SamplesHGDP01215
Known GenesMIR218-2, SLIT3
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)nssv538659
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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