A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538752



Internal ID15512992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:18842328..18894005hg38UCSC Ensembl
Innerchr6:18842559..18894236hg19UCSC Ensembl
Innerchr6:18950538..19002215hg18UCSC Ensembl
Innerchr6:18950538..19002215hg17UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3851678
hg1951678
hg1851678
hg1751678
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462647
Supporting Variants
SamplesNINDS_91
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)nssv538752
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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