A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466772



Internal ID15526837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190477123..190523150hg38UCSC Ensembl
Innerchr1:190446253..190492280hg19UCSC Ensembl
Innerchr1:188712876..188758903hg18UCSC Ensembl
Innerchr1:187177910..187223937hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3846028
hg1946028
hg1846028
hg1746028
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv50n27
Supporting Variantsnssv542238
SamplesHGDP00088
Known GenesBRINP3
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)nsv466772
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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