A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542658



Internal ID15510578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:195943449..196150180hg38UCSC Ensembl
Innerchr1:195912579..196119310hg19UCSC Ensembl
Innerchr1:194179202..194385933hg18UCSC Ensembl
Innerchr1:192644236..192850967hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38206732
hg19206732
hg18206732
hg17206732
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467339
Supporting Variants
SamplesHGDP01267
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)nssv542658
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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