A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538527



Internal ID15505683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:103889473..103918726hg38UCSC Ensembl
Innerchr5:103225174..103254427hg19UCSC Ensembl
Innerchr5:103253073..103282326hg18UCSC Ensembl
Innerchr5:103253073..103282326hg17UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3829254
hg1929254
hg1829254
hg1729254
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462326
Supporting Variants
SamplesHGDP00189
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)nssv538527
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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