A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468924



Internal ID15528989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134479860..134864402hg38UCSC Ensembl
Innerchr11:134349754..134734296hg19UCSC Ensembl
Innerchr11:133854964..134239506hg18UCSC Ensembl
Innerchr11:133854964..134239506hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38384543
hg19384543
hg18384543
hg17384543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv172n27
Supporting Variantsnssv543968
Samples1780854467_A
Known GenesLOC283177
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)nsv468924
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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