A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544103



Internal ID15163416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:14469068..14535710hg38UCSC Ensembl
Innerchr12:14622002..14688644hg19UCSC Ensembl
Innerchr12:14513269..14579911hg18UCSC Ensembl
Innerchr12:14513269..14579911hg17UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3866643
hg1966643
hg1866643
hg1766643
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469119
Supporting Variants
SamplesHGDP01188
Known GenesATF7IP, PLBD1
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)nssv544103
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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