A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458529



Internal ID15518594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:83000131..83123080hg38UCSC Ensembl
Innerchr2:83227255..83350204hg19UCSC Ensembl
Innerchr2:83080766..83203715hg18UCSC Ensembl
Innerchr2:83138913..83261862hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38122950
hg19122950
hg18122950
hg17122950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv468n27
Supporting Variantsnssv535445
Samples1782681317_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)nsv458529
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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