A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv737n27



Internal ID22767466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:4255474..4481187hg38UCSC Ensembl
chr6:4255708..4481421hg19UCSC Ensembl
chr6:4200707..4426420hg18UCSC Ensembl
chr6:4200707..4426420hg17UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38225714
hg19225714
hg18225714
hg17225714
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462620, nsv462619
SamplesNINDS_147, NINDS_271
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)dgv737n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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