A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538250



Internal ID15504817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:8703036..8757929hg38UCSC Ensembl
Innerchr5:8703148..8758041hg19UCSC Ensembl
Innerchr5:8756148..8811041hg18UCSC Ensembl
Innerchr5:8756148..8811041hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3854894
hg1954894
hg1854894
hg1754894
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461941
Supporting Variants
Samples1798860306_A
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)nssv538250
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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