A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv357n27



Internal ID20132615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83994518..84005144hg38UCSC Ensembl
chr16:84028123..84038749hg19UCSC Ensembl
chr16:82585624..82596250hg18UCSC Ensembl
chr16:82585624..82596250hg17UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3810627
hg1910627
hg1810627
hg1710627
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457592, nsv457593
Samples1780854206_A, HGDP00784
Known GenesNECAB2
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)dgv357n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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