A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5718



Internal ID15543702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1144625..1163419hg38UCSC Ensembl
Outerchr19:1144624..1163418hg19UCSC Ensembl
Outerchr19:1095624..1114418hg18UCSC Ensembl
Outerchr19:1095624..1114418hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg387163
hg197163
hg187163
hg177163
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2386
Supporting Variants
SamplesNA19129
Known GenesSBNO2
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv5718
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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