A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464080



Internal ID15177459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:150601979..150620174hg38UCSC Ensembl
Innerchr6:150923115..150941310hg19UCSC Ensembl
Innerchr6:150964808..150983003hg18UCSC Ensembl
Innerchr6:151015229..151033424hg17UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3818196
hg1918196
hg1818196
hg1718196
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540068
SamplesHGDP00534
Known GenesPLEKHG1
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)nsv464080
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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