A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538239



Internal ID15164083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:8467787..8664635hg38UCSC Ensembl
Innerchr5:8467900..8664747hg19UCSC Ensembl
Innerchr5:8520900..8717747hg18UCSC Ensembl
Innerchr5:8520900..8717747hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38196849
hg19196848
hg18196848
hg17196848
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461929
Supporting Variants
SamplesHGDP01297
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)nssv538239
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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