A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953613



Internal ID16955800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54097214..54198733hg38UCSC Ensembl
Outerchr19:54600501..54702600hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38101520
hg19102100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999879
SamplesBILGI_BIOE
Known GenesCNOT3, LENG1, MBOAT7, NDUFA3, OSCAR, PRPF31, TFPT, TMC4, TSEN34
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953613
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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