A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462915



Internal ID15522980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:38760366..38805517hg38UCSC Ensembl
Innerchr6:38728142..38773293hg19UCSC Ensembl
Innerchr6:38836120..38881271hg18UCSC Ensembl
Innerchr6:38836120..38881271hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3845152
hg1945152
hg1845152
hg1745152
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538973
SamplesHGDP00914
Known GenesDNAH8
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)nsv462915
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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