A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466272



Internal ID15179651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186773815..186834094hg38UCSC Ensembl
Innerchr1:186742947..186803226hg19UCSC Ensembl
Innerchr1:185009570..185069849hg18UCSC Ensembl
Innerchr1:183474604..183534883hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3860280
hg1960280
hg1860280
hg1760280
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541863
SamplesHGDP01185
Known GenesPLA2G4A
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)nsv466272
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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