A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578740



Internal ID16019463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:17259381..17285740hg38UCSC Ensembl
Innerchr19:17370190..17396549hg19UCSC Ensembl
Innerchr19:17231190..17257549hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3826360
hg1926360
hg1826360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv895731
Samples
Known GenesANKLE1, BABAM1, USHBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578740
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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