A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv728n27



Internal ID22767457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:163322967..163369178hg38UCSC Ensembl
chr5:162749973..162796184hg19UCSC Ensembl
chr5:162682551..162728762hg18UCSC Ensembl
chr5:162682551..162728762hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3846212
hg1946212
hg1846212
hg1746212
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462503, nsv462502
SamplesNINDS_158, NINDS_71
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)dgv728n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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