A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537079



Internal ID15510593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:45356494..45365100hg38UCSC Ensembl
Innerchr3:45397986..45406592hg19UCSC Ensembl
Innerchr3:45372990..45381596hg18UCSC Ensembl
Innerchr3:45372990..45381596hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg388607
hg198607
hg188607
hg178607
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460524
Supporting Variants
SamplesHGDP01269
Known Genes
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)nssv537079
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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