A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464140



Internal ID15177519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167013193..167079064hg38UCSC Ensembl
Innerchr6:167426681..167492552hg19UCSC Ensembl
Innerchr6:167346671..167412542hg18UCSC Ensembl
Innerchr6:167397092..167462963hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3865872
hg1965872
hg1865872
hg1765872
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540113
Samples1780854255_A
Known GenesFGFR1OP
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)nsv464140
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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