A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953578



Internal ID16955765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41421196..41428795hg38UCSC Ensembl
Outerchr19:41927101..41934700hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg387600
hg197600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999844
SamplesBILGI_BIOE
Known GenesB3GNT8, BCKDHA
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953578
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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