A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464006



Internal ID15524071
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv39n27
Supporting Variantsnssv540009
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)nsv464006
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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