A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458485



Internal ID15518550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:83000131..83110586hg38UCSC Ensembl
Innerchr2:83227255..83337710hg19UCSC Ensembl
Innerchr2:83080766..83191221hg18UCSC Ensembl
Innerchr2:83138913..83249368hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38110456
hg19110456
hg18110456
hg17110456
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv468n27
Supporting Variantsnssv535419
Samples1780862176_A
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)nsv458485
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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