A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6319n54



Internal ID20139743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:20638696..20818370hg38UCSC Ensembl
chr19:20821502..21001176hg19UCSC Ensembl
chr19:20613342..20793016hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38179675
hg19179675
hg18179675
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv578924, nsv578934, nsv578925, nsv578931, nsv578933, nsv578927, nsv578932, nsv578923, nsv578929, nsv578940, nsv578928, nsv578930, nsv578937, nsv578938
Samples1782681317_A, 1780862408_A, NINDS_110, 1780854063_A
Known GenesZNF626
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6319n54
Frequency
Sample Size17421
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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