A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543721



Internal ID15166029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:69002565..69053408hg38UCSC Ensembl
Innerchr11:68770033..68820876hg19UCSC Ensembl
Innerchr11:68526609..68577452hg18UCSC Ensembl
Innerchr11:68526609..68577452hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3850844
hg1950844
hg1850844
hg1750844
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468619
Supporting Variants
SamplesNINDS_54
Known GenesMRGPRF, TPCN2
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)nssv543721
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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