A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543699



Internal ID15512574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:63080046..63124412hg38UCSC Ensembl
Innerchr11:62847518..62891884hg19UCSC Ensembl
Innerchr11:62604094..62648460hg18UCSC Ensembl
Innerchr11:62604094..62648460hg17UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3844367
hg1944367
hg1844367
hg1744367
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468587
Supporting Variants
SamplesNINDS_36
Known GenesSLC22A24
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)nssv543699
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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