A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2392



Internal ID15200269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3978494..4003202hg38UCSC Ensembl
Outerchr19:3978492..4003200hg19UCSC Ensembl
Outerchr19:3929492..3954200hg18UCSC Ensembl
Outerchr19:3929492..3954200hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384859
hg194859
hg184859
hg174859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1430, nssv4338
SamplesNA12878, NA19240
Known GenesEEF2, SNORD37
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)nsv2392
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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