A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134793



Internal ID18930146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:43546334..43546407hg38UCSC Ensembl
Outerchr19:44050486..44050559hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972681
SamplesKWS2
Known GenesXRCC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134793
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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