A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123216



Internal ID19281386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8059395..8059455hg38UCSC Ensembl
Outerchr19:8124279..8124339hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972214
SamplesKWS2
Known GenesCCL25
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123216
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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