A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463907



Internal ID15523972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:80337842..80366195hg38UCSC Ensembl
Innerchr6:81047559..81075912hg19UCSC Ensembl
Innerchr6:81104278..81132631hg18UCSC Ensembl
Innerchr6:81104278..81132631hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3828354
hg1928354
hg1828354
hg1728354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539923
SamplesHGDP00341
Known GenesBCKDHB
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)nsv463907
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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