A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998967



Internal ID17291919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:16120191..16128790hg38UCSC Ensembl
Outerchr19:16231001..16239600hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg388600
hg198600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953991
Supporting Variants
SamplesBILGI_BIOE
Known GenesRAB8A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998967
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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