A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144866



Internal ID18907553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15199789..15200489hg38UCSC Ensembl
Outerchr19:15310600..15311300hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981465
SamplesKWS1
Known GenesNOTCH3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144866
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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