A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6246n54



Internal ID22774141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7231633..7269310hg38UCSC Ensembl
chr19:7231644..7269321hg19UCSC Ensembl
chr19:7182644..7220321hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3837678
hg1937678
hg1837678
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv578503, nsv578504
SamplesHGDP01234, HGDP01240
Known GenesINSR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6246n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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