A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538658



Internal ID15506756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:168245100..168275036hg38UCSC Ensembl
Innerchr5:167672105..167702041hg19UCSC Ensembl
Innerchr5:167604683..167634619hg18UCSC Ensembl
Innerchr5:167604683..167634619hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3829937
hg1929937
hg1829937
hg1729937
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462512
Supporting Variants
SamplesHGDP00551
Known GenesTENM2
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)nssv538658
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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