A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537687



Internal ID15509086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12363839..12382323hg38UCSC Ensembl
Innerchr4:12365463..12383947hg19UCSC Ensembl
Innerchr4:11974561..11993045hg18UCSC Ensembl
Innerchr4:12041732..12060216hg17UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3818485
hg1918485
hg1818485
hg1718485
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461273
Supporting Variants
SamplesHGDP00940
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)nssv537687
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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