A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953952



Internal ID16956139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5645090..5708389hg38UCSC Ensembl
Outerchr19:5645101..5708400hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3863300
hg1963300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998931
SamplesBILGI_BIOE
Known GenesC19orf70, HSD11B1L, LONP1, RPL36, SAFB
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953952
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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