A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580343



Internal ID16021066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55466542..55521721hg38UCSC Ensembl
Innerchr19:55977909..56033088hg19UCSC Ensembl
Innerchr19:60669721..60724900hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3855180
hg1955180
hg1855180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150381
SamplesNINDS_69
Known GenesNAT14, SSC5D, ZNF628
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580343
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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