A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455687



Internal ID15515752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:90807717..90849110hg38UCSC Ensembl
Innerchr12:91201494..91242887hg19UCSC Ensembl
Innerchr12:89725625..89767018hg18UCSC Ensembl
Innerchr12:89703962..89745355hg17UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3841394
hg1941394
hg1841394
hg1741394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv209n27
Supporting Variantsnssv533195
SamplesHGDP01030
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)nsv455687
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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