A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458315



Internal ID15171694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79432116..79460616hg38UCSC Ensembl
Innerchr18:77192116..77220616hg19UCSC Ensembl
Innerchr18:75293104..75321604hg18UCSC Ensembl
Innerchr18:75293104..75321604hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3828501
hg1928501
hg1828501
hg1728501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535270
SamplesHGDP00372
Known GenesNFATC1
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)nsv458315
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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