A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538223



Internal ID15506700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1009968..1093145hg38UCSC Ensembl
Innerchr5:1010083..1093260hg19UCSC Ensembl
Innerchr5:1063083..1146260hg18UCSC Ensembl
Innerchr5:1063083..1146260hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3883178
hg1983178
hg1883178
hg1783178
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461897
Supporting Variants
SamplesHGDP00545
Known GenesMIR4635, NKD2, SLC12A7
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)nssv538223
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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