A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540009



Internal ID15509402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152566917..152618089hg38UCSC Ensembl
Innerchr1:152539393..152590565hg19UCSC Ensembl
Innerchr1:150806017..150857189hg18UCSC Ensembl
Innerchr1:149352466..149403638hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3851173
hg1951173
hg1851173
hg1751173
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464006
Supporting Variants
SamplesHGDP00998
Known GenesLCE3B, LCE3C, LCE3D
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)nssv540009
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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