A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578369



Internal ID16019092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:2014038..2015023hg38UCSC Ensembl
Innerchr19:2014037..2015022hg19UCSC Ensembl
Innerchr19:1965037..1966022hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38986
hg19986
hg18986
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv892050, nssv892052, nssv892051
Samples
Known GenesBTBD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578369
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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