A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv649n27



Internal ID22767378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:25552889..25576891hg38UCSC Ensembl
chr4:25554511..25578513hg19UCSC Ensembl
chr4:25163609..25187611hg18UCSC Ensembl
chr4:25230780..25254782hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3824003
hg1924003
hg1824003
hg1724003
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461310, nsv461305, nsv461294, nsv461293, nsv461303, nsv461302, nsv461300, nsv461292, nsv461309, nsv461299, nsv461307, nsv461297, nsv461298, nsv461296, nsv461301, nsv461304, nsv461308
SamplesHGDP01385, 1780854518_A, HGDP00154, HGDP00023, HGDP00226, 1782681110_A, HGDP00205, HGDP00144, 1780862575_A, HGDP00035, NINDS_95, HGDP00602, 1780862577_A, HGDP00740, HGDP01153, HGDP00011, HGDP00125
Known Genes
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)dgv649n27
Frequency
Sample Size1557
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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