A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540079



Internal ID15165598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162144686..162522923hg38UCSC Ensembl
Innerchr6:162565718..162943955hg19UCSC Ensembl
Innerchr6:162485708..162863945hg18UCSC Ensembl
Innerchr6:162536129..162914366hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38378238
hg19378238
hg18378238
hg17378238
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464093
Supporting Variants
SamplesNINDS_225
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)nssv540079
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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