A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538758



Internal ID15511730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:23629053..23720804hg38UCSC Ensembl
Innerchr6:23629281..23721032hg19UCSC Ensembl
Innerchr6:23737260..23829011hg18UCSC Ensembl
Innerchr6:23737260..23829011hg17UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3891752
hg1991752
hg1891752
hg1791752
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462656
Supporting Variants
SamplesNINDS_136
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)nssv538758
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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