A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121960



Internal ID18904361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:708700..709300hg38UCSC Ensembl
Outerchr19:708700..709300hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968631
SamplesKWS2
Known GenesPALM
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121960
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