A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538180



Internal ID15511055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:171168136..171226746hg38UCSC Ensembl
Innerchr4:172089287..172147897hg19UCSC Ensembl
Innerchr4:172325862..172384472hg18UCSC Ensembl
Innerchr4:172464017..172522627hg17UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3858611
hg1958611
hg1858611
hg1758611
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461837
Supporting Variants
SamplesHGDP01347
Known GenesMIR6082
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)nssv538180
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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