A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv602n27



Internal ID20132860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50140578..50287241hg38UCSC Ensembl
chr3:50178011..50324672hg19UCSC Ensembl
chr3:50153015..50299676hg18UCSC Ensembl
chr3:50153015..50299676hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38146664
hg19146662
hg18146662
hg17146662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460530, nsv460529
SamplesNINDS_201, NINDS_49
Known GenesGNAI2, GNAT1, LSMEM2, MIR5787, MIR6872, SEMA3B, SEMA3F, SLC38A3
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)dgv602n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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