A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6474n54



Internal ID22774369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42866627..43209931hg38UCSC Ensembl
chr19:43370779..43714083hg19UCSC Ensembl
chr19:48062619..48405923hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38343305
hg19343305
hg18343305
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv579722, nsv579734, nsv579748, nsv579742, nsv579705, nsv579724, nsv579737, nsv579721, nsv579733, nsv579723
Samples1780854522_A, HGDP01378, HGDP01246, HGDP00319, 1780862457_A, NINDS_156
Known GenesPSG1, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6474n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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