A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv825n27



Internal ID22767554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:89914999..90080467hg38UCSC Ensembl
chr7:89544313..89709781hg19UCSC Ensembl
chr7:89382249..89547717hg18UCSC Ensembl
chr7:89188964..89354432hg17UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38165469
hg19165469
hg18165469
hg17165469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv464631, nsv464632, nsv464630
Samples1780854206_A, NINDS_193, NINDS_149
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)dgv825n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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