A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999844



Internal ID16946110
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 StatusS
Merged Variantsnsv953578
Supporting Variants
SamplesBILGI_BIOE
Known GenesB3GNT8, BCKDHA
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999844
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer