A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116295



Internal ID19262607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6448841..6448895hg38UCSC Ensembl
Outerchr19:6448852..6448906hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3954657
SamplesKWS1
Known GenesSLC25A23
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116295
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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