A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542872



Internal ID15166151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2864498..2891716hg38UCSC Ensembl
Innerchr11:2885728..2912946hg19UCSC Ensembl
Innerchr11:2842304..2869522hg18UCSC Ensembl
Innerchr11:2842304..2869522hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3827219
hg1927219
hg1827219
hg1727219
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467655
Supporting Variants
SamplesNINDS_69
Known GenesCDKN1C, KCNQ1DN, SLC22A18AS
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)nssv542872
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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