A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544260



Internal ID15161125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48863009..48891607hg38UCSC Ensembl
Innerchr12:49256792..49285390hg19UCSC Ensembl
Innerchr12:47543059..47571657hg18UCSC Ensembl
Innerchr12:47543059..47571657hg17UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3828599
hg1928599
hg1828599
hg1728599
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469373
Supporting Variants
SamplesHGDP00721
Known GenesRND1
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)nssv544260
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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