A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468601



Internal ID15181980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:66466552..66528643hg38UCSC Ensembl
Innerchr11:66234023..66296114hg19UCSC Ensembl
Innerchr11:65990599..66052690hg18UCSC Ensembl
Innerchr11:65990599..66052690hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3862092
hg1962092
hg1862092
hg1762092
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543704
Samples1780862448_A
Known GenesBBS1, DPP3, PELI3
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)nsv468601
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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