A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953597



Internal ID17302471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48169744..48174143hg38UCSC Ensembl
Outerchr19:48673001..48677400hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg384400
hg194400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999863
SamplesBILGI_BIOE
Known GenesC19orf68, LIG1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953597
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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