A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2388



Internal ID15546951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1707799..1741438hg38UCSC Ensembl
Outerchr19:1707798..1741437hg19UCSC Ensembl
Outerchr19:1658798..1692437hg18UCSC Ensembl
Outerchr19:1658798..1692437hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg386386
hg196386
hg186386
hg176386
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2990
SamplesNA18555
Known Genes
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)nsv2388
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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