A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538408



Internal ID15506256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:52079355..52136835hg38UCSC Ensembl
Innerchr5:51375189..51432669hg19UCSC Ensembl
Innerchr5:51410946..51468426hg18UCSC Ensembl
Innerchr5:51410946..51468426hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3857481
hg1957481
hg1857481
hg1757481
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462185
Supporting Variants
SamplesHGDP00454
Known Genes
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)nssv538408
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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