A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458296



Internal ID15518361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77099706..77147654hg38UCSC Ensembl
Innerchr2:77326832..77374780hg19UCSC Ensembl
Innerchr2:77180340..77228288hg18UCSC Ensembl
Innerchr2:77238487..77286435hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3847949
hg1947949
hg1847949
hg1747949
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535257
Samples1787431198_A
Known GenesLRRTM4
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)nsv458296
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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