A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462184



Internal ID15522249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:79832265..80265883hg38UCSC Ensembl
Innerchr1:80297950..80731568hg19UCSC Ensembl
Innerchr1:80070538..80504156hg18UCSC Ensembl
Innerchr1:80009971..80443589hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38433619
hg19433619
hg18433619
hg17433619
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538407
SamplesHGDP01308
Known Genes
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)nsv462184
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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