A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv669n27



Internal ID20132927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:144000454..144135334hg38UCSC Ensembl
chr4:144921607..145056487hg19UCSC Ensembl
chr4:145141057..145275937hg18UCSC Ensembl
chr4:145279212..145414092hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38134881
hg19134881
hg18134881
hg17134881
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461668, nsv461671, nsv461670, nsv461669, nsv461673
SamplesHGDP00106, HGDP00672, HGDP01273, HGDP01341, HGDP00711
Known GenesGYPA, GYPB
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)dgv669n27
Frequency
Sample Size1557
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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