A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv16n27



Internal ID22766745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40877936..40918166hg38UCSC Ensembl
chr1:41343608..41383838hg19UCSC Ensembl
chr1:41116195..41156425hg18UCSC Ensembl
chr1:41012701..41052931hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3840231
hg1940231
hg1840231
hg1740231
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461195, nsv461217, nsv461295, nsv461206, nsv461328, nsv461261, nsv461161, nsv461239, nsv461250, nsv461272, nsv461284, nsv461173, nsv461306, nsv461228, nsv461184, nsv461139, nsv461150
SamplesNINDS_238, NINDS_18, HGDP00624, HGDP00614, HGDP00513, 1780862443_A, 1780862346_A, 1798860336_A, 1780862551_A, NINDS_98, 1780862125_A, HGDP00082, 1798860192_A, HGDP01153, HGDP00319, HGDP00628, 1780854436_A
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)dgv16n27
Frequency
Sample Size1557
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer