A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110726



Internal ID19278172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2247050..2247129hg38UCSC Ensembl
Outerchr19:2247049..2247128hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961134
SamplesKWS1
Known GenesSF3A2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110726
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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