A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2397



Internal ID15200274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6301379..6334209hg38UCSC Ensembl
Outerchr19:6301390..6334220hg19UCSC Ensembl
Outerchr19:6252390..6285220hg18UCSC Ensembl
Outerchr19:6252390..6285220hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg386426
hg196426
hg186426
hg176426
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5720
SamplesNA19129
Known GenesACER1
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)nsv2397
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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