A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv31n27



Internal ID22766760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121422747..121570001hg38UCSC Ensembl
chr1:121164607..121311799hg19UCSC Ensembl
chr1:120866130..121013322hg18UCSC Ensembl
chr1:120776649..120923841hg17UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38147255
hg19147193
hg18147193
hg17147193
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv463361, nsv463350, nsv463406, nsv463372, nsv463383, nsv463395
Samples1780862433_A, 1782681236_A, 1780862227_A, NINDS_230, 1780862597_A, 1780854327_A
Known GenesEMBP1
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)dgv31n27
Frequency
Sample Size1557
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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