A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138669



Internal ID19254179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14313865..14313915hg38UCSC Ensembl
Outerchr19:14424677..14424727hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991252
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138669
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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