A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537116



Internal ID15503118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:61054612..61068673hg38UCSC Ensembl
Innerchr3:61040284..61054345hg19UCSC Ensembl
Innerchr3:61015324..61029385hg18UCSC Ensembl
Innerchr3:61015324..61029385hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3814062
hg1914062
hg1814062
hg1714062
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460574
Supporting Variants
Samples1780862085_A
Known GenesFHIT
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)nssv537116
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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