A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539888



Internal ID15162722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152541856..152580889hg38UCSC Ensembl
Innerchr1:152514332..152553365hg19UCSC Ensembl
Innerchr1:150780956..150819989hg18UCSC Ensembl
Innerchr1:149327405..149366438hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3839034
hg1939034
hg1839034
hg1739034
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463872
Supporting Variants
SamplesHGDP00999
Known GenesLCE3D, LCE3E
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)nssv539888
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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