A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952420



Internal ID16954607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:18117791..18476990hg38UCSC Ensembl
Outerchr19:18228601..18587800hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38359200
hg19359200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998970
SamplesBILGI_BIOE
Known GenesELL, GDF15, IFI30, ISYNA1, JUND, KIAA1683, LOC729966, LRRC25, LSM4, MAST3, MIR3188, MIR3189, MPV17L2, PDE4C, PGPEP1, PIK3R2, RAB3A, SSBP4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952420
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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