A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455721



Internal ID15515786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:115087270..115105654hg38UCSC Ensembl
Innerchr12:115525075..115543459hg19UCSC Ensembl
Innerchr12:114009458..114027842hg18UCSC Ensembl
Innerchr12:113987795..114006179hg17UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3818385
hg1918385
hg1818385
hg1718385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533220
SamplesHGDP01063
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)nsv455721
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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