A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462648



Internal ID15522713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:18914393..18979680hg38UCSC Ensembl
Innerchr6:18914624..18979911hg19UCSC Ensembl
Innerchr6:19022603..19087890hg18UCSC Ensembl
Innerchr6:19022603..19087890hg17UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3865288
hg1965288
hg1865288
hg1765288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538753
SamplesHGDP01348
Known Genes
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)nsv462648
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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