A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2386



Internal ID15200263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1132297..1167730hg38UCSC Ensembl
Outerchr19:1132296..1167729hg19UCSC Ensembl
Outerchr19:1083296..1118729hg18UCSC Ensembl
Outerchr19:1083296..1118729hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg387815
hg197815
hg187815
hg177815
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5718, nssv2989, nssv10171, nssv6767
SamplesNA18956, NA19129, NA12156, NA18555
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)nsv2386
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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