A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578368



Internal ID16019091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:2014038..2014843hg38UCSC Ensembl
Innerchr19:2014037..2014842hg19UCSC Ensembl
Innerchr19:1965037..1965842hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38806
hg19806
hg18806
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6215n54
Supporting Variantsnssv892049
Samples
Known GenesBTBD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578368
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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