A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468768



Internal ID15182147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:85684137..85725309hg38UCSC Ensembl
Innerchr11:85395180..85436352hg19UCSC Ensembl
Innerchr11:85072828..85114000hg18UCSC Ensembl
Innerchr11:85072828..85114000hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3841173
hg1941173
hg1841173
hg1741173
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543859
Samples1780862596_A
Known GenesCCDC89, SYTL2
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)nsv468768
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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