A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540085



Internal ID15155652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162295509..162493954hg38UCSC Ensembl
Innerchr6:162716541..162914986hg19UCSC Ensembl
Innerchr6:162636531..162834976hg18UCSC Ensembl
Innerchr6:162686952..162885397hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38198446
hg19198446
hg18198446
hg17198446
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464103
Supporting Variants
Samples1780854305_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)nssv540085
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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