A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462891



Internal ID15522956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32830771..32837157hg38UCSC Ensembl
Innerchr6:32798548..32804934hg19UCSC Ensembl
Innerchr6:32906526..32912912hg18UCSC Ensembl
Innerchr6:32906526..32912912hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg386387
hg196387
hg186387
hg176387
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538961
SamplesHGDP01147
Known GenesTAP2
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)nsv462891
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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