A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140144



Internal ID18933067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5996249..5996302hg38UCSC Ensembl
Outerchr19:5996260..5996313hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978856
SamplesKWS2
Known GenesLOC100128568, RFX2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140144
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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