A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4346



Internal ID15192387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14152102..14185122hg38UCSC Ensembl
Outerchr19:14262914..14295934hg19UCSC Ensembl
Outerchr19:14123914..14156934hg18UCSC Ensembl
Outerchr19:14123914..14156934hg17UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg386719
hg196719
hg186719
hg176719
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2423
Supporting Variants
SamplesNA12878
Known GenesLOC100507373, LPHN1
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)nssv4346
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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