A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462921



Internal ID15522986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:39861447..39891891hg38UCSC Ensembl
Innerchr6:39829223..39859667hg19UCSC Ensembl
Innerchr6:39937201..39967645hg18UCSC Ensembl
Innerchr6:39937201..39967645hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3830445
hg1930445
hg1830445
hg1730445
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538979
SamplesHGDP01003
Known GenesDAAM2
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)nsv462921
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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