A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462249



Internal ID15522314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:92672576..92718442hg38UCSC Ensembl
Innerchr5:92008283..92054149hg19UCSC Ensembl
Innerchr5:92034039..92079905hg18UCSC Ensembl
Innerchr5:92034039..92079905hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3845867
hg1945867
hg1845867
hg1745867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538461
Samples1780854061_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)nsv462249
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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