A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544282



Internal ID15503307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:62499419..62565357hg38UCSC Ensembl
Innerchr12:62893199..62959137hg19UCSC Ensembl
Innerchr12:61179466..61245404hg18UCSC Ensembl
Innerchr12:61179466..61245404hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3865939
hg1965939
hg1865939
hg1765939
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469418
Supporting Variants
Samples1780862194_A
Known GenesMON2
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)nssv544282
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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