A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12022n54



Internal ID22779917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:16085204..16171983hg38UCSC Ensembl
chr8:15942713..16029492hg19UCSC Ensembl
chr8:15987084..16073863hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3886780
hg1986780
hg1886780
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610582, nsv610592, nsv610588, nsv610589, nsv610586, nsv610583, nsv610581, nsv610579, nsv610578, nsv610591, nsv610587, nsv610580
SamplesHGDP01402, HGDP00524, NINDS_206, 1780862041_A, HGDP00886, 1780862306_A
Known GenesMSR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12022n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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