A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544016



Internal ID15510761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7825127..7923089hg38UCSC Ensembl
Innerchr12:7977723..8075685hg19UCSC Ensembl
Innerchr12:7868990..7966952hg18UCSC Ensembl
Innerchr12:7868990..7966952hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3897963
hg1997963
hg1897963
hg1797963
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468999
Supporting Variants
SamplesHGDP01295
Known GenesSLC2A14, SLC2A3
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)nssv544016
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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