A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952426



Internal ID16954613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19525792..19601091hg38UCSC Ensembl
Outerchr19:19636601..19711900hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3875300
hg1975300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998976
SamplesBILGI_BIOE
Known GenesCILP2, NDUFA13, PBX4, YJEFN3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952426
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