A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540082



Internal ID15157209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162222395..162253061hg38UCSC Ensembl
Innerchr6:162643427..162674093hg19UCSC Ensembl
Innerchr6:162563417..162594083hg18UCSC Ensembl
Innerchr6:162613838..162644504hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3830667
hg1930667
hg1830667
hg1730667
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464097
Supporting Variants
Samples1780862452_A
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)nssv540082
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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