A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464089



Internal ID15177468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:161621973..161680146hg38UCSC Ensembl
Innerchr6:162043005..162101178hg19UCSC Ensembl
Innerchr6:161962995..162021168hg18UCSC Ensembl
Innerchr6:162013416..162071589hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3858174
hg1958174
hg1858174
hg1758174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540076
SamplesHGDP00216
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)nsv464089
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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