A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467657



Internal ID15181036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2879188..2916401hg38UCSC Ensembl
Innerchr11:2900418..2937631hg19UCSC Ensembl
Innerchr11:2856994..2894207hg18UCSC Ensembl
Innerchr11:2856994..2894207hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3837214
hg1937214
hg1837214
hg1737214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542873
SamplesHGDP00776
Known GenesCDKN1C, SLC22A18, SLC22A18AS
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)nsv467657
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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