A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540094



Internal ID15164554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162420385..162493954hg38UCSC Ensembl
Innerchr6:162841417..162914986hg19UCSC Ensembl
Innerchr6:162761407..162834976hg18UCSC Ensembl
Innerchr6:162811828..162885397hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3873570
hg1973570
hg1873570
hg1773570
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464118
Supporting Variants
SamplesHGDP01375
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)nssv540094
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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