A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462450



Internal ID8489497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:88799565..88841134hg38UCSC Ensembl
Innerchr1:89265248..89306817hg19UCSC Ensembl
Innerchr1:89037836..89079405hg18UCSC Ensembl
Innerchr1:88977269..89018838hg17UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3841570
hg1941570
hg1841570
hg1741570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538610
SamplesHGDP01047
Known GenesPKN2
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)nsv462450
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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