A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464120



Internal ID15177499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162462452..162505049hg38UCSC Ensembl
Innerchr6:162883484..162926081hg19UCSC Ensembl
Innerchr6:162803474..162846071hg18UCSC Ensembl
Innerchr6:162853895..162896492hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3842598
hg1942598
hg1842598
hg1742598
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540096
SamplesHGDP00151
Known GenesPARK2
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)nsv464120
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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