A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119703



Internal ID18914332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91782686..91782755hg38UCSC Ensembl
Outerchr1:92248243..92248312hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982159
SamplesKWS1
Known GenesTGFBR3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119703
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