A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461940



Internal ID15522005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:8703036..8757578hg38UCSC Ensembl
Innerchr5:8703148..8757690hg19UCSC Ensembl
Innerchr5:8756148..8810690hg18UCSC Ensembl
Innerchr5:8756148..8810690hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3854543
hg1954543
hg1854543
hg1754543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv688n27
Supporting Variantsnssv538249
Samples1780862071_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)nsv461940
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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