A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537441



Internal ID15512985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:166204028..166274942hg38UCSC Ensembl
Innerchr3:165921816..165992730hg19UCSC Ensembl
Innerchr3:167404510..167475424hg18UCSC Ensembl
Innerchr3:167404518..167475432hg17UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg3870915
hg1970915
hg1870915
hg1770915
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460977
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)nssv537441
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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