A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461978



Internal ID15522043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:12566773..13328177hg38UCSC Ensembl
Innerchr5:12566885..13328289hg19UCSC Ensembl
Innerchr5:12619885..13381289hg18UCSC Ensembl
Innerchr5:12619885..13381289hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38761405
hg19761405
hg18761405
hg17761405
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538282
Samples1798860113_A
Known GenesCT49
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)nsv461978
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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