A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458995



Internal ID15172374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3167148..3197116hg38UCSC Ensembl
Innerchr1:3083712..3113680hg19UCSC Ensembl
Innerchr1:3073572..3103540hg18UCSC Ensembl
Innerchr1:3106869..3136837hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3829969
hg1929969
hg1829969
hg1729969
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535843
SamplesHGDP00814
Known GenesPRDM16
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)nsv458995
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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