A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1430



Internal ID15197592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3983633..3999324hg38UCSC Ensembl
Outerchr19:3983631..3999322hg19UCSC Ensembl
Outerchr19:3934631..3950322hg18UCSC Ensembl
Outerchr19:3934631..3950322hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg387227
hg197227
hg187227
hg177227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2392
Supporting Variants
SamplesNA19240
Known GenesEEF2
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)nssv1430
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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