A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv13n27



Internal ID22766742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16019962..16050336hg38UCSC Ensembl
chr1:16346457..16376831hg19UCSC Ensembl
chr1:16219044..16249418hg18UCSC Ensembl
chr1:16091763..16122137hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3830375
hg1930375
hg1830375
hg1730375
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460651, nsv460640
SamplesHGDP00906, HGDP00941
Known GenesCLCNKA, CLCNKB
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)dgv13n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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