A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv287n27



Internal ID20132545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22732985..23117883hg38UCSC Ensembl
chr15:22755185..23140114hg19UCSC Ensembl
chr15:20306549..20691555hg18UCSC Ensembl
chr15:20306549..20691555hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38384899
hg19384930
hg18385007
hg17385007
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv456623, nsv456625, nsv456622, nsv456631, nsv456627, nsv456628, nsv456626, nsv456630, nsv456624
Samples1780862444_A, HGDP00428, HGDP01103, HGDP00969, HGDP01348, 1798860567_A, HGDP00239, HGDP00701, 1780862252_A
Known GenesCYFIP1, LOC283683, NIPA1, NIPA2, TUBGCP5
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)dgv287n27
Frequency
Sample Size1557
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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