A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458285



Internal ID15518350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77049075..77118365hg38UCSC Ensembl
Innerchr2:77276201..77345491hg19UCSC Ensembl
Innerchr2:77129709..77198999hg18UCSC Ensembl
Innerchr2:77187856..77257146hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3869291
hg1969291
hg1869291
hg1769291
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535248
Samples1780862355_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)nsv458285
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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