A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv473n27



Internal ID20132731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110099666..110224953hg38UCSC Ensembl
chr2:110857243..110982530hg19UCSC Ensembl
chr2:110214532..110339819hg18UCSC Ensembl
chr2:110214618..110339905hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38125288
hg19125288
hg18125288
hg17125288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv458918, nsv458840, nsv458907, nsv458951, nsv458818, nsv458862, nsv458873, nsv458885, nsv458807, nsv458929, nsv458940, nsv458851, nsv458896, nsv458962
SamplesHGDP00665, HGDP01308, NINDS_37, HGDP00757, HGDP01271, NINDS_271, HGDP00556, HGDP01261, HGDP00234, HGDP01027, HGDP00594, NINDS_236, 1782681316_A, 1780862390_A
Known GenesLINC00116, MALL, NPHP1
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)dgv473n27
Frequency
Sample Size1557
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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