A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467782



Internal ID15181161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:27171168..27474614hg38UCSC Ensembl
Innerchr11:27192715..27496161hg19UCSC Ensembl
Innerchr11:27149291..27452737hg18UCSC Ensembl
Innerchr11:27149291..27452737hg17UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg38303447
hg19303447
hg18303447
hg17303447
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542971
SamplesHGDP00068
Known GenesCCDC34, LGR4
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)nsv467782
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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