A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv735n27



Internal ID20132993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181006880..181206854hg38UCSC Ensembl
chr5:180433880..180633854hg19UCSC Ensembl
chr5:180366486..180566460hg18UCSC Ensembl
chr5:180366486..180566460hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38199975
hg19199975
hg18199975
hg17199975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462589, nsv462590
SamplesHGDP00473, HGDP00472
Known GenesBTNL9, LOC102577426, MIR8089, OR2V1, OR2V2, TRIM7
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)dgv735n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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