A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv726n27



Internal ID22767455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148268947..148310137hg38UCSC Ensembl
chr5:147648510..147689700hg19UCSC Ensembl
chr5:147628703..147669893hg18UCSC Ensembl
chr5:147628703..147669893hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3841191
hg1941191
hg1841191
hg1741191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462479, nsv462480
SamplesHGDP01309, HGDP01095
Known GenesLOC102546294, SPINK13
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)dgv726n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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