A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468636



Internal ID15182015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:72694823..72720634hg38UCSC Ensembl
Innerchr11:72405868..72431679hg19UCSC Ensembl
Innerchr11:72083516..72109327hg18UCSC Ensembl
Innerchr11:72083516..72109327hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3825812
hg1925812
hg1825812
hg1725812
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543731
SamplesHGDP01095
Known GenesARAP1
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)nsv468636
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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