A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544005



Internal ID15164188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3576597..3989342hg38UCSC Ensembl
Innerchr12:3685763..4098508hg19UCSC Ensembl
Innerchr12:3556024..3968769hg18UCSC Ensembl
Innerchr12:3556024..3968769hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38412746
hg19412746
hg18412746
hg17412746
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468981
Supporting Variants
SamplesHGDP01312
Known GenesEFCAB4B, PARP11, PRMT8
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)nssv544005
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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