A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544266



Internal ID15158135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52297319..52383729hg38UCSC Ensembl
Innerchr12:52691103..52777513hg19UCSC Ensembl
Innerchr12:50977370..51063780hg18UCSC Ensembl
Innerchr12:50977370..51063780hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3886411
hg1986411
hg1886411
hg1786411
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469385
Supporting Variants
Samples1798860306_A
Known GenesKRT83, KRT84, KRT85, KRT86
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)nssv544266
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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