A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578375



Internal ID16019098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:2014151..2015023hg38UCSC Ensembl
Innerchr19:2014150..2015022hg19UCSC Ensembl
Innerchr19:1965150..1966022hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38873
hg19873
hg18873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6215n54
Supporting Variantsnssv892060, nssv892059
Samples
Known GenesBTBD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578375
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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