A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998930



Internal ID16945196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5065290..5240089hg38UCSC Ensembl
Outerchr19:5065301..5240100hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38174800
hg19174800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953951
Supporting Variants
SamplesBILGI_BIOE
Known GenesKDM4B, PTPRS
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998930
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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