A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543705



Internal ID15157762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:66700998..66866926hg38UCSC Ensembl
Innerchr11:66468469..66634397hg19UCSC Ensembl
Innerchr11:66225045..66390973hg18UCSC Ensembl
Innerchr11:66225045..66390973hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38165929
hg19165929
hg18165929
hg17165929
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468602
Supporting Variants
Samples1782681216_A
Known GenesC11orf80, LRFN4, PC, RCE1, SPTBN2
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)nssv543705
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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