A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542856



Internal ID15503471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:366710..432436hg38UCSC Ensembl
Innerchr11:366710..432436hg19UCSC Ensembl
Innerchr11:356710..422436hg18UCSC Ensembl
Innerchr11:356710..422436hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3865727
hg1965727
hg1865727
hg1765727
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467633
Supporting Variants
Samples1780862300_A
Known GenesANO9, B4GALNT4, PKP3, SIGIRR
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)nssv542856
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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