A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537115



Internal ID15505441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:60554932..60743382hg38UCSC Ensembl
Innerchr3:60540665..60729115hg19UCSC Ensembl
Innerchr3:60515705..60704155hg18UCSC Ensembl
Innerchr3:60515705..60704155hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38188451
hg19188451
hg18188451
hg17188451
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv460573
Supporting Variants
SamplesHGDP00134
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)nssv537115
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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