A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538242



Internal ID15511702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:8702260..8746994hg38UCSC Ensembl
Innerchr5:8702372..8747106hg19UCSC Ensembl
Innerchr5:8755372..8800106hg18UCSC Ensembl
Innerchr5:8755372..8800106hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3844735
hg1944735
hg1844735
hg1744735
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461932
Supporting Variants
SamplesNINDS_132
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)nssv538242
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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