A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538086



Internal ID15507317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:66479675..66497223hg38UCSC Ensembl
Innerchr1:66945358..66962906hg19UCSC Ensembl
Innerchr1:66717946..66735494hg18UCSC Ensembl
Innerchr1:66657379..66674927hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3817549
hg1917549
hg1817549
hg1717549
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461729
Supporting Variants
SamplesHGDP00643
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)nssv538086
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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