A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463952



Internal ID15524017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:92064060..92114249hg38UCSC Ensembl
Innerchr6:92773778..92823967hg19UCSC Ensembl
Innerchr6:92830499..92880688hg18UCSC Ensembl
Innerchr6:92830499..92880688hg17UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3850190
hg1950190
hg1850190
hg1750190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539965
SamplesHGDP00543
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)nsv463952
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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