A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461942



Internal ID15522007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:8703503..8757929hg38UCSC Ensembl
Innerchr5:8703615..8758041hg19UCSC Ensembl
Innerchr5:8756615..8811041hg18UCSC Ensembl
Innerchr5:8756615..8811041hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3854427
hg1954427
hg1854427
hg1754427
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv688n27
Supporting Variantsnssv538251
Samples1780854558_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)nsv461942
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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