A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4338



Internal ID15192379
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 Flag1
Merged StatusS
Merged Variantsnsv2392
Supporting Variants
SamplesNA12878
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)nssv4338
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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