A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110729



Internal ID19247680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55360300..55360374hg38UCSC Ensembl
Outerchr19:55871668..55871742hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961138
SamplesKWS1
Known GenesFAM71E2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110729
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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