A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6800



Internal ID15537063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54221498..54226019hg38UCSC Ensembl
Outerchr19:54725370..54729890hg19UCSC Ensembl
Outerchr19:59417182..59421702hg18UCSC Ensembl
Outerchr19:59417182..59421702hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3819872
hg1919872
hg1819872
hg1719872
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2547
Supporting Variants
SamplesNA12156
Known GenesLILRB3
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)nssv6800
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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