A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv703n27



Internal ID22767432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:51981695..52093054hg38UCSC Ensembl
chr5:51277529..51388888hg19UCSC Ensembl
chr5:51313286..51424645hg18UCSC Ensembl
chr5:51313286..51424645hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38111360
hg19111360
hg18111360
hg17111360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462167, nsv462166
SamplesNINDS_94, 1780854449_A
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)dgv703n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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