A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535080



Internal ID15506379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:1972345..2075914hg38UCSC Ensembl
Innerchr18:1972346..2075915hg19UCSC Ensembl
Innerchr18:1962346..2065915hg18UCSC Ensembl
Innerchr18:1962346..2065915hg17UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38103570
hg19103570
hg18103570
hg17103570
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458010
Supporting Variants
SamplesHGDP00472
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)nssv535080
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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