A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544253



Internal ID15508445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:44959584..44995034hg38UCSC Ensembl
Innerchr12:45353367..45388817hg19UCSC Ensembl
Innerchr12:43639634..43675084hg18UCSC Ensembl
Innerchr12:43639634..43675084hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3835451
hg1935451
hg1835451
hg1735451
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469365
Supporting Variants
SamplesHGDP00828
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)nssv544253
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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